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ACC/AHA 2008 Guidelines for the Management of Adults With Congenital
Heart Disease: A Report of the American College of Cardiology/American
Heart Association Task Force on Practice Guidelines (Writing Committee to
Develop Guidelines on the Management of Adults With Congenital Heart
Disease) Developed in Collaboration With the American Society of
Echocardiography, Heart Rhythm Society, International Society for Adult
Congenital Heart Disease, Society for Cardiovascular Angiography and
Interventions, and Society of Thoracic Surgeons
Carole A. Warnes, Roberta G. Williams, Thomas M. Bashore, John S. Child, Heidi
M. Connolly, Joseph A. Dearani, Pedro del Nido, James W. Fasules, Thomas P.
Graham, Jr, Ziyad M. Hijazi, Sharon A. Hunt, Mary Etta King, Michael J.
Landzberg, Pamela D. Miner, Martha J. Radford, Edward P. Walsh, and Gary D.
Webb
J. Am. Coll. Cardiol. published online Nov 7, 2008;
doi:10.1016/j.jacc.2008.10.001
This information is current as of November 8, 2008
Downloaded from content.onlinejacc.org by on November 8, 2008
The online version of this article, along with updated information and services, is
located on the World Wide Web at:
http://content.onlinejacc.org/cgi/content/full/j.jacc.2008.10.001v1
ARTICLE IN PRESS
Journal of the American College of Cardiology
© 2008 by the American College of Cardiology Foundation and American Heart Association, Inc.
Published by Elsevier Inc.
Vol. 52, No. 23, 2008
ISSN 0735-1097/08/$34.00
DOI:10.1016/j.jacc.2008.10.001
PRACTICE GUIDELINE: FULL TEXT
ACC/AHA 2008 Guidelines for the
Management of Adults With Congenital Heart Disease
A Report of the American College of Cardiology/American Heart Association Task Force on Practice
Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital
Heart Disease)
Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International
Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography
and Interventions, and Society of Thoracic Surgeons
WRITING COMMITTEE MEMBERS
Carole A. Warnes, MD, FRCP, FACC, FAHA, Co-Chair; Roberta G. Williams, MD, MACC, FAHA, Co-Chair;
Thomas M. Bashore, MD, FACC; John S. Child, MD, FACC, FAHA; Heidi M. Connolly, MD, FACC;
Joseph A. Dearani, MD, FACC*; Pedro del Nido, MD; James W. Fasules, MD, FACC;
Thomas P. Graham, Jr, MD, FACC†; Ziyad M. Hijazi, MBBS, MPH, FACC, FSCAI‡;
Sharon A. Hunt, MD, FACC, FAHA; Mary Etta King, MD, FACC, FASE§;
Michael J. Landzberg, MD, FACC; Pamela D. Miner, RN, MN, NP; Martha J. Radford, MD, FACC;
Edward P. Walsh, MD, FACC㛳; Gary D. Webb, MD, FACC¶
TASK FORCE MEMBERS
Sidney C. Smith, Jr, MD, FACC, FAHA, Chair; Alice K. Jacobs, MD, FACC, FAHA, Vice-Chair;
Cynthia D. Adams, RSN, PhD, FAHA#; Jeffrey L. Anderson, MD, FACC, FAHA#;
Elliott M. Antman, MD, FACC, FAHA**; Christopher E. Buller, MD, FACC;
Mark A. Creager, MD, FACC, FAHA; Steven M. Ettinger, MD, FACC;
Jonathan L. Halperin, MD, FACC, FAHA#; Sharon A. Hunt, MD, FACC, FAHA#;
Harlan M. Krumholz, MD, FACC, FAHA; Frederick G. Kushner, MD, FACC, FAHA;
Bruce W. Lytle, MD, FACC, FAHA#; Rick A. Nishimura, MD, FACC, FAHA;
Richard L. Page, MD, FACC, FAHA; Barbara Riegel, DNSc, RN, FAHA#; Lynn G. Tarkington, RN;
Clyde W. Yancy, MD, FACC, FAHA
*Society of Thoracic Surgeons representative.
†International Society for Adult Congenital Heart Disease representative.
‡Society for Cardiovascular Angiography and Interventions representative.
§American Society of Echocardiography representative.
㛳Heart Rhythm Society representative.
¶Canadian Cardiovascular Society representative.
#Former Task Force member during this writing effort.
**Immediate past chair.
This document was approved by the American College of Cardiology Foundation Board of Trustees in July 2008 and by the American Heart
Association Science Advisory and Coordinating Committee in August 2008.
The American College of Cardiology Foundation requests that this document be cited as follows: Warnes CA, Williams RG, Bashore TM, Child JS,
Connolly HM, Dearani JA, del Nido P, Fasules JW, Graham TP Jr., Hijazi ZM, Hunt SA, King ME, Landzberg MJ, Miner PD, Radford MJ, Walsh EP,
Webb GD. ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of
Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines for the Management of Adults
With Congenital Heart Disease). J Am Coll Cardiol 2008;52:xxx–xxx.
This article has been copublished in Circulation.
Copies: This document is available on the World Wide Web sites of the American Heart Association (my.americanheart.org) and the American College
of Cardiology (www.acc.org). For copies of this document, please contact Elsevier Inc. reprint department, fax (212) 633-3820, e-mail reprints@
elsevier.com.
Permissions: Multiple copies, modification, alteration, enhancement, and/or distribution of this document are not permitted without the express
permission of the American College of Cardiology Foundation or the American Heart Association. Please contact Elsevier’s permission department at
[email protected].
ARTICLE IN PRESS
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Warnes et al.
ACC/AHA 2008 Guidelines for Adults With CHD
TABLE OF CONTENTS
Preamble . . . . . . . . . . . . . . . . . . . . . . . . . . .e8
1. Introduction . . . . . . . . . . . . . . . . . . . . . . . .e8
1.1. Methodology and Evidence Review . . . . . . . .e8
1.2. Organization of Committee and
Relationships With Industry . . . . . . . . . . . .e9
1.3. Document Review and Approval . . . . . . . . . .e9
1.4. Epidemiology and Scope of the Problem. . . . . .e9
1.5. Recommendations for Delivery of
Care and Ensuring Access . . . . . . . . . . . . .e9
1.5.1. Recommendations for Access to Care . . . .e12
1.5.2. Recommendations for Psychosocial
Issues . . . . . . . . . . . . . . . . . . . . .e13
1.5.3. Transition of Care . . . . . . . . . . . . . . .e14
1.5.4. Exercise and Athletics. . . . . . . . . . . . .e15
1.5.5. Employment . . . . . . . . . . . . . . . . . .e15
1.5.6. Insurability. . . . . . . . . . . . . . . . . . .e15
1.5.7. Congenital Syndromes . . . . . . . . . . . .e16
1.5.8. Medical/Ethical/Legal Issues . . . . . . . . .e16
1.6. Recommendations for Infective Endocarditis . . .e17
1.7. Recommendations for Noncardiac Surgery . . . .e21
1.8. Recommendations for Pregnancy
and Contraception . . . . . . . . . . . . . . . . .e21
1.8.1. Contraception . . . . . . . . . . . . . . . . .e22
1.9. Recommendations for Arrhythmia
Diagnosis and Management . . . . . . . . . . . .e22
1.9.1. Management of Tachyarrhythmias:
Wolff-Parkinson-White Syndrome . . . . . .e23
1.9.2. Intra-Atrial Reentrant Tachycardia
or Atrial Flutter . . . . . . . . . . . . . . . .e23
1.9.3. Atrial Fibrillation . . . . . . . . . . . . . . .e24
1.9.4. Ventricular Tachycardia . . . . . . . . . . . .e24
1.10. Management of Bradycardias . . . . . . . . . .e25
1.10.1. Sinoatrial Node Dysfunction. . . . . . . . .e25
1.10.2. Atrioventricular Block . . . . . . . . . . . .e26
1.11. Cyanotic Congenital Heart Disease . . . . . . .e26
1.11.1. Recommendations for Hematologic
Problems . . . . . . . . . . . . . . . . . . .e26
1.11.1.1. Hemostasis. . . . . . . . . . . . . . . .e27
1.11.1.2. Renal Function . . . . . . . . . . . . .e27
1.11.1.3. Gallstones . . . . . . . . . . . . . . . .e27
1.11.1.4. Orthopedic and Rheumatologic
Complications . . . . . . . . . . . . . .e27
1.11.1.5. Neurological Complications. . . . . . .e27
1.11.1.6. Pulmonary Vascular Disease . . . . . .e27
1.12. Recommendations for General
Health Issues for Cyanotic Patients . . . . . . .e27
1.12.1. Hospitalization and Operation . . . . . . . .e27
1.12.2. Cardiac Reoperation and Preoperative
Evaluation . . . . . . . . . . . . . . . . . .e27
1.13. Heart Failure in Adult Congenital Heart
Disease . . . . . . . . . . . . . . . . . . . . . .e28
1.14. Recommendations for Heart and
Heart/Lung Transplantation . . . . . . . . . . .e30
2. Atrial Septal Defect. . . . . . . . . . . . . . . . . . .e31
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2.1. Definition. . . . . . . . . . . . . . . . . . . .
2.1.1. Associated Lesions . . . . . . . . . . . .
2.2. Clinical Course . . . . . . . . . . . . . . . . .
2.2.1. Unrepaired Atrial Septal Defect . . . . .
2.3. Recommendations for Evaluation
of the Unoperated Patient . . . . . . . . . . .
2.3.1. Clinical Examination . . . . . . . . . . .
2.3.2. Electrocardiogram . . . . . . . . . . . . .
2.3.3. Chest X-Ray . . . . . . . . . . . . . . . .
2.3.4. Echocardiography . . . . . . . . . . . . .
2.3.5. Magnetic Resonance Imaging. . . . . . .
2.3.6. Exercise Testing . . . . . . . . . . . . . .
2.4. Diagnostic Problems and Pitfalls . . . . . . .
2.5. Management Strategies . . . . . . . . . . . .
2.5.1. Recommendations for Medical Therapy .
2.5.2. Recommendations for Interventional
and Surgical Therapy . . . . . . . . . . .
2.5.3. Indications for Closure of Atrial Septal
Defect . . . . . . . . . . . . . . . . . . .
2.5.4. Catheter Intervention . . . . . . . . . . .
2.5.5. Key Issues to Evaluate and Follow-Up. .
2.6. Recommendations for Postintervention
Follow-Up . . . . . . . . . . . . . . . . . . .
2.6.1. Endocarditis Prophylaxis . . . . . . . . .
2.6.2. Recommendation for Reproduction . . . .
2.6.3. Activity . . . . . . . . . . . . . . . . . .
3. Ventricular Septal Defect. . . . . . . . . . . . . .
3.1. Definition. . . . . . . . . . . . . . . . . . . .
3.2. Clinical Course (Unrepaired) . . . . . . . . .
3.3. Clinical Features and Evaluation of
the Unoperated Patient . . . . . . . . . . . . .
3.3.3. Chest X-Ray . . . . . . . . . . . . . . . .
3.3.5. Magnetic Resonance Imaging/Computed
Tomography . . . . . . . . . . . . . . . .
3.3.6. Recommendations for Cardiac
Catheterization. . . . . . . . . . . . . . .
3.4. Diagnostic Problems and Pitfalls . . . . . . .
3.5.1. Recommendation for Medical
Therapy . . . . . . . . . . . . . . . . . .
3.5.2. Recommendations for Surgical
Ventricular Septal Defect Closure . . . .
3.5.3. Recommendation for Interventional
3.6. Key Issues to Evaluate and Follow-Up . . . .
3.6.1. Recommendations for Surgical and
Catheter Intervention Follow-Up . . . . .
3.6.2. Recommendation for Reproduction . . . .
3.6.3. Activity . . . . . . . . . . . . . . . . . .
4. Atrioventricular Septal Defect . . . . . . . . . . .
4.1. Definition. . . . . . . . . . . . . . . . . . . .
4.2. Associated Lesions . . . . . . . . . . . . . . .
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4.3. Clinical Features and Evaluation . . . . . . .
4.3.3. Chest X-Ray . . . . . . . . . . . . . . . .
4.3.5. Magnetic Resonance Imaging. . . . . . .
4.3.6. Recommendation for Heart
4.4.1. Medical Therapy . . . . . . . . . . . . .
4.4.2. Recommendations for Surgical Therapy .
4.5.1. Key Postoperative Issues . . . . . . . . .
4.5.2. Evaluation and Follow-Up of the
Repaired Patient . . . . . . . . . . . . . .
4.5.3. Electrophysiology Testing/Pacing Issues
in Atrioventricular Septal Defects . . . .
4.5.4. Recommendations for Endocarditis
Prophylaxis . . . . . . . . . . . . . . . .
4.6. Reproduction . . . . . . . . . . . . . . . . . .
4.6.1. Genetic Aspects . . . . . . . . . . . . . .
4.6.2. Recommendations for Pregnancy . . . . .
4.7. Exercise . . . . . . . . . . . . . . . . . . . .
5. Patent Ductus Arteriosus . . . . . . . . . . . . . .
5.1. Definition and Associated Lesions . . . . . .
5.2. Presentation and Clinical Course . . . . . . .
5.3. Recommendations for Evaluation of
5.3.4. Chest X-Ray . . . . . . . . . . . . . . . .
5.3.5. Cardiac Catheterization . . . . . . . . . .
5.3.6. Magnetic Resonance Imaging/
Computed Tomography . . . . . . . . . .
5.4. Problems and Pitfalls . . . . . . . . . . . . .
5.5.1. Recommendations for Medical
Therapy . . . . . . . . . . . . . . . . . .
5.5.2. Recommendations for Closure
of Patent Ductus Arteriosus . . . . . . . .
5.5.3. Surgical/Interventional Therapy. . . . . .
6. Left-Sided Heart Obstructive Lesions:
Aortic Valve Disease, Subvalvular and
Supravalvular Aortic Stenosis,
Associated Disorders of the Ascending
Aorta, and Coarctation . . . . . . . . . . . . . . .
6.1. Definition. . . . . . . . . . . . . . . . . . . .
6.3. Clinical Course (Unrepaired) . . . . . . . . .
6.4.3. Chest X-Ray . . . . . . . . . . . . . . . .
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Tomography . . . . . . . . . . . . . . . .
6.4.6. Stress Testing . . . . . . . . . . . . . . .
6.6. Management Strategies for Left
Ventricular Outflow Tract Obstruction
and Associated Lesions . . . . . . . . . . . .
6.6.1. Recommendations for Medical Therapy .
6.6.2. Catheter and Surgical Intervention . . . .
6.6.2.1. Recommendations for Catheter
Interventions for Adults With
Valvular Aortic Stenosis . . . . . . .
6.6.2.2. Recommendations for Aortic
Valve Repair/Replacement and
Aortic Root Replacement. . . . . . .
6.7. Recommendations for Key Issues to
Evaluate and Follow-Up . . . . . . . . . . . .
6.7.1. Reproduction . . . . . . . . . . . . . . .
6.7.2. Activity/Exercise . . . . . . . . . . . . .
6.8. Isolated Subaortic Stenosis . . . . . . . . . .
6.8.1. Definition . . . . . . . . . . . . . . . . .
6.8.3. Clinical Course With/Without
Previous Intervention . . . . . . . . . . .
6.8.4. Clinical Features and Evaluation . . . . .
6.8.4.1. Clinical Examination . . . . . . . . .
6.8.4.2. Electrocardiogram . . . . . . . . . .
6.8.4.3. Chest X-Ray . . . . . . . . . . . . .
6.8.4.4. Echocardiography . . . . . . . . . . .
6.8.5. Diagnostic Cardiac Catheterization . . . .
6.8.6. Problems and Pitfalls . . . . . . . . . . .
6.8.7. Management Strategies . . . . . . . . . .
6.8.7.1. Medical Therapy . . . . . . . . . . .
6.8.7.2. Recommendations for Surgical
Intervention . . . . . . . . . . . . . .
6.8.8. Recommendations for Key Issues
to Evaluate and Follow-Up . . . . . . . .
6.8.9. Special Issues . . . . . . . . . . . . . . .
6.8.9.1. Pregnancy . . . . . . . . . . . . . . .
6.8.9.2. Exercise and Athletics . . . . . . . .
6.9. Supravalvular Aortic Stenosis . . . . . . . . .
6.9.1. Definition . . . . . . . . . . . . . . . . .
6.9.3. Clinical Course (Unrepaired) . . . . . . .
of the Unoperated Patient . . . . . . . . . .
6.10.1. Clinical Examination. . . . . . . . . . .
6.10.2. Electrocardiogram . . . . . . . . . . . .
6.10.3. Chest X-Ray . . . . . . . . . . . . . . .
6.10.4. Imaging . . . . . . . . . . . . . . . . . .
6.10.5. Stress Testing . . . . . . . . . . . . . .
6.10.6. Myocardial Perfusion Imaging . . . . .
6.10.7. Cardiac Catheterization . . . . . . . . .
6.11. Management Strategies for Supravalvular
Left Ventricular Outflow Tract. . . . . . . .
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6.11.1. Recommendations for Interventional and
Surgical Therapy . . . . . . . . . . . . . .
6.11.2. Recommendations for Key Issues to
Evaluate and Follow-Up . . . . . . . . . .
6.11.3. Special Issues . . . . . . . . . . . . . . .
6.11.4. Exercise and Athletics . . . . . . . . . . .
6.11.5. Recommendations for Reproduction . . .
6.12. Aortic Coarctation . . . . . . . . . . . . . . .
6.12.1. Definition. . . . . . . . . . . . . . . . . .
6.12.2. Associated Lesions . . . . . . . . . . . . .
6.12.3. Recommendations for Clinical
Evaluation and Follow-Up . . . . . . . . .
6.13. Clinical Features and Evaluation
of Unrepaired Patients . . . . . . . . . . . . .
6.13.2. Chest X-Ray . . . . . . . . . . . . . . . .
6.13.3. Echocardiography and Doppler . . . . . .
6.13.4. Stress Testing . . . . . . . . . . . . . . .
Magnetic Resonance Angiography
or Computed Tomography With
3-Dimensional Reconstruction . . . . . . .
6.13.6. Catheterization Hemodynamics/
Angiography . . . . . . . . . . . . . . . .
6.14. Management Strategies for
Coarctation of the Aorta . . . . . . . . . . . .
6.14.1. Medical Therapy . . . . . . . . . . . . . .
6.14.2. Recommendations for Interventional and
Surgical Treatment of Coarctation of
the Aorta in Adults . . . . . . . . . . . .
6.14.3. Recommendations for Key Issues
to Evaluate and Follow-Up . . . . . . . .
6.14.4. Exercise and Athletics . . . . . . . . . . .
6.14.5. Reproduction . . . . . . . . . . . . . . . .
6.14.6. Endocarditis Prophylaxis. . . . . . . . . .
7. Right Ventricular Outflow Tract Obstruction . . . .
7.1. Definition. . . . . . . . . . . . . . . . . . . . .
7.2. Associated Lesions . . . . . . . . . . . . . . . .
7.3. Valvular Pulmonary Stenosis . . . . . . . . . .
7.3.1. Definition . . . . . . . . . . . . . . . . . .
7.4. Clinical Course . . . . . . . . . . . . . . . . . .
7.4.1. Unrepaired Patients . . . . . . . . . . . . .
7.4.2. Noonan Syndrome Patients With Prior
Repair . . . . . . . . . . . . . . . . . . . .
the Unoperated Patient . . . . . . . . . . . . . .
7.5.1. Clinical Examination . . . . . . . . . . . .
7.5.2. Electrocardiogram . . . . . . . . . . . . . .
7.5.3. Chest X-Ray . . . . . . . . . . . . . . . . .
7.5.4. Echocardiography . . . . . . . . . . . . . .
Tomography . . . . . . . . . . . . . . . . .
7.5.6. Cardiac Catheterization . . . . . . . . . . .
7.5.7. Relationship Between Peak Instantaneous
Doppler Echocardiographic Pressure
Gradients and Peak-to-Peak Cardiac
Catheterization Gradients . . . . . . . . . .
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7.6. Problems and Pitfalls . . . . . . . . . . . . . .
7.6.1. Dyspnea . . . . . . . . . . . . . . . . . . .
7.6.2. Chest Pain . . . . . . . . . . . . . . . . . .
7.6.3. Enlarging Right Ventricle . . . . . . . . . .
7.6.4. Pulmonary Arterial Hypertension . . . . . .
7.6.5. Cyanosis . . . . . . . . . . . . . . . . . . .
7.6.6. Systemic Venous Congestion . . . . . . . .
7.7. Management Strategies . . . . . . . . . . . . .
7.7.1. Recommendations for Intervention in
Patients With Valvular Pulmonary
Stenosis . . . . . . . . . . . . . . . . . . .
7.7.2. Percutaneous Balloon Pulmonary
Valvotomy . . . . . . . . . . . . . . . . . .
7.7.3. Surgical Pulmonary Valvotomy or Valve
Replacement . . . . . . . . . . . . . . . . .
7.8. Recommendation for Clinical Evaluation
and Follow-Up After Intervention . . . . . . . .
7.8.1. Reproduction . . . . . . . . . . . . . . . .
7.8.2. Endocarditis Prophylaxis . . . . . . . . . .
7.8.3. Exercise and Athletics. . . . . . . . . . . .
7.9. Right-Sided Heart Obstruction Due to
Supravalvular, Branch, and Peripheral
Pulmonary Artery Stenosis . . . . . . . . . . .
7.9.1. Definition and Associated Lesions . . . . .
7.9.2. Clinical Course . . . . . . . . . . . . . . .
of the Unrepaired Patient . . . . . . . . . . . .
7.10.2. Chest X-Ray . . . . . . . . . . . . . . . .
Computed Tomography . . . . . . . . . .
Patients With Supravalvular, Branch, and
Peripheral Pulmonary Stenosis . . . . . . . . .
7.11.2.1. Medical Therapy . . . . . . . . . . .
7.12. Recommendations for Interventional Therapy
in the Management of Branch and Peripheral
Pulmonary Stenosis . . . . . . . . . . . . . . .
7.12.1. Recommendations for Evaluation
and Follow-Up . . . . . . . . . . . . . . .
Stenotic Right Ventricular–Pulmonary Artery
Conduits or Bioprosthetic Valves . . . . . . .
7.13.1. Definition and Associated Lesions . . . .
7.13.2. Recommendation for Evaluation
and Follow-Up After Right
Ventricular–Pulmonary Artery
Conduit or Prosthetic Valve . . . . . . . .
7.13.3. Clinical Examination. . . . . . . . . . . .
7.13.5. Chest X-Ray . . . . . . . . . . . . . . . .
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JACC Vol. 52, No. 23, 2008
December 2, 2008:000–000
Computed Tomography . . . . . . . . .
7.14. Recommendations for Reintervention in
Patients With Right Ventricular–Pulmonary
Artery Conduit or Bioprosthetic Pulmonary
Valve Stenosis . . . . . . . . . . . . . . . .
7.14.1. Medical Therapy . . . . . . . . . . . . .
7.14.2. Interventional Catheterization . . . . . .
7.14.3. Surgical Intervention . . . . . . . . . . .
7.14.4. Key Issues to Evaluate and Follow-Up .
7.15. Double-Chambered Right Ventricle . . . . .
7.15.1. Definition and Associated Lesions . . .
7.15.2. Clinical Features and Evaluation
of the Unoperated Patient . . . . . . . .
7.15.5. Echocardiography-Doppler Imaging. . .
7.15.6. Magnetic Resonance Imaging . . . . . .
7.16.1. Multiple Levels of Right Ventricular
Outflow Tract Obstruction . . . . . . . .
7.17.1. Recommendations for Intervention
in Patients With Double-Chambered
Right Ventricle . . . . . . . . . . . . . .
7.18. Key Issues to Evaluate and Follow-Up . . .
8. Coronary Artery Abnormalities . . . . . . . . . .
8.1. Definition and Associated Lesions . . . . . .
8.1.1. General Recommendations for
Evaluation and Surgical Intervention . . .
8.2. Recommendations for Coronary Anomalies
Associated With Supravalvular Aortic
Stenosis . . . . . . . . . . . . . . . . . . . . .
8.2.1. Clinical Course (Unrepaired) . . . . . . .
8.2.2. Clinical Features. . . . . . . . . . . . . .
8.3. Recommendation for Coronary Anomalies
Associated With Tetralogy of Fallot . . . . .
8.3.1. Preintervention Evaluation . . . . . . . .
8.3.2. Surgical and Catheterization-Based
Interventions . . . . . . . . . . . . . . . .
Associated With Dextro-Transposition of
the Great Arteries After Arterial Switch
Operation . . . . . . . . . . . . . . . . . . . .
8.4.1. Definition and Associated Lesions . . . .
8.4.2. Clinical Course . . . . . . . . . . . . . .
After Arterial Switch Operation . . . . .
Intervention . . . . . . . . . . . . . . . .
8.5. Recommendations for Congenital
Coronary Anomalies of Ectopic
Arterial Origin . . . . . . . . . . . . . . . . .
8.5.1. Definition, Associated Lesions,
and Clinical Course . . . . . . . . . . . .
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of the Unoperated Patient . . . . . . . . .
8.5.2.1. Preintervention Evaluation . . . . . .
8.5.3.1. Surgical and Catheterization-Based
Intervention . . . . . . . . . . . . . .
8.6. Recommendations for Anomalous
Left Coronary Artery From the Pulmonary
Artery. . . . . . . . . . . . . . . . . . . . . .
8.6.1. Definition and Associated Lesions
and Clinical Course . . . . . . . . . . . .
Intervention . . . . . . . . . . . . . . . .
8.8. Recommendations for Coronary
Arteriovenous Fistula . . . . . . . . . . . . .
8.8.1. Definition . . . . . . . . . . . . . . . . .
8.8.2. Clinical Course . . . . . . . . . . . . . .
8.8.3. Preintervention Evaluation . . . . . . . .
8.9. Recommendations for Management
Strategies . . . . . . . . . . . . . . . . . . . .
8.9.2. Catheterization-Based Intervention . . . .
8.9.3. Preintervention Evaluation After Surgical
or Catheterization-Based Repair . . . . .
9. Pulmonary Hypertension/Eisenmenger
Physiology . . . . . . . . . . . . . . . . . . . . .
9.1. Definition. . . . . . . . . . . . . . . . . . . .
9.2. Clinical Course . . . . . . . . . . . . . . . . .
9.2.1. Dynamic Congenital Heart Disease–
Pulmonary Arterial Hypertension . . . . .
9.2.2. Immediate Postoperative Congenital
Heart Disease–Pulmonary Arterial
Hypertension. . . . . . . . . . . . . . . .
9.2.3. Late Postoperative Congenital Heart
Disease–Pulmonary Arterial Hypertension .
9.2.4. Normal to Mildly Abnormal Pulmonary
Vascular Resistance States . . . . . . . .
9.2.5. Eisenmenger Physiology . . . . . . . . .
the Patient With Congenital Heart
Disease–Pulmonary Arterial Hypertension . .
9.4.1. Dynamic Congenital Heart Disease–
Pulmonary Arterial Hypertension . . . . .
9.4.2. Eisenmenger Physiology . . . . . . . . .
9.5.1. Recommendations for Medical
Therapy of Eisenmenger Physiology . . .
9.6.1. Recommendations for Reproduction . . .
9.6.2. Pregnancy . . . . . . . . . . . . . . . . .
9.6.3. Other Interventions . . . . . . . . . . . .
9.6.4. Recommendations for Follow-Up. . . . .
9.6.5. Endocarditis Prophylaxis . . . . . . . . .
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10. Tetralogy of Fallot . . . . . . . . . . . . . . . . .
10.1 Definition and Associated Lesions . . . . . . .
10.2. Clinical Course (Unrepaired) . . . . . . . . . .
10.2.1. Presentation as an Unoperated Patient . .
10.2.2. Postsurgical Presentation. . . . . . . . . .
10.3. Clinical Features and Evaluation . . . . . . . .
10.3.3. Chest X-Ray . . . . . . . . . . . . . . . .
10.3.4. Initial Surgical Repair . . . . . . . . . . .
10.4. Recommendations for Evaluation and
Follow-Up of the Repaired Patient. . . . . . .
10.4.1. Recommendation for Imaging . . . . . . .
10.5. Recommendations for Diagnostic and
Interventional Catheterization for
Adults With Tetralogy of Fallot . . . . . . . .
10.5.1. Branch Pulmonary Artery Angioplasty . .
10.5.3. Diagnostic Catheterization . . . . . . . . .
10.6. Problems and Pitfalls in the Patient
With Prior Repair . . . . . . . . . . . . . . . .
10.7. Management Strategy for the Patient
With Prior Repair . . . . . . . . . . . . . . . .
10.7.1. Medical Therapy . . . . . . . . . . . . . .
10.8. Recommendations for Surgery for Adults
With Previous Repair of Tetralogy
of Fallot . . . . . . . . . . . . . . . . . . . . .
Catheterization . . . . . . . . . . . . . . .
10.9. Key Issues to Evaluate and Follow-Up
10.9.1. Recommendations for Arrhythmias:
Pacemaker/Electrophysiology Testing . . .
10.9.2. Reproduction . . . . . . . . . . . . . . . .
10.9.3. Exercise . . . . . . . . . . . . . . . . . .
10.9.4. Endocarditis Prophylaxis. . . . . . . . . .
11. Dextro-Transposition of the Great Arteries. . . . .
11.1. Definition . . . . . . . . . . . . . . . . . . . .
11.3. Clinical Course: Unrepaired . . . . . . . . . .
11.4. Recommendation for Evaluation of
the Operated Patient With DextroTransposition of the Great Arteries . . . . . .
of Dextro-Transposition of the Great
Arteries After Atrial Baffle Procedure . .
11.4.4. Imaging for Dextro-Transposition of the
Great Arteries After Atrial Baffle
Procedure . . . . . . . . . . . . . . . . . .
11.4.4.1. Recommendations for Imaging for
Dextro-Transposition of the Great
Arteries After Atrial Baffle Procedure . .
Dextro-Transposition of the
Great Arteries After Arterial
Switch Operation . . . . . . . . . . . . . . . .
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11.5.3. Chest X-Ray . . . . . . . . . . . . . . .
11.5.4. Recommendations for Imaging for
Arteries After Arterial Switch Operation
11.5.5. Recommendation for Cardiac
Catheterization After Arterial
Switch Operation. . . . . . . . . . . . .
11.6. Clinical Features and Evaluation:
Arteries After Rastelli Operation. . . . . . .
11.6.2. Chest X-Ray . . . . . . . . . . . . . . .
11.6.3. Imaging . . . . . . . . . . . . . . . . . .
11.7. Recommendations for Diagnostic
Catheterization for Adults With
Repaired Dextro-Transposition
of the Great Arteries . . . . . . . . . . . . .
11.7.1. Problems and Pitfalls . . . . . . . . . .
11.8.1. Medical Therapy . . . . . . . . . . . . .
11.8.2. Recommendations for
Interventional Catheterization for
Adults With Dextro-Transposition
of the Great Arteries . . . . . . . . . . .
11.8.2.1. Interventional Catheter Options
After Atrial Baffle. . . . . . . . . .
After Arterial Switch Operation . .
After Rastelli Repair . . . . . . . .
Interventions . . . . . . . . . . . . . . .
11.8.3.1. After Atrial Baffle Procedure
(Mustard, Senning) . . . . . . . . .
11.8.3.2. After Arterial Switch Operation . .
11.8.3.3. After Rastelli Procedure. . . . . . .
11.8.3.4. Reoperation After Atrial Baffle
Procedure . . . . . . . . . . . . . .
11.8.3.5. Reoperation After Arterial Switch
Operation . . . . . . . . . . . . . .
11.8.3.6. Reoperation After Rastelli Repair .
11.8.3.7. Other Reoperation Options . . . . .
11.9. Recommendations for Electrophysiology
Testing/Pacing Issues in DextroTransposition of the Great Arteries . . . . .
11.10. Key Issues to Evaluate and Follow-Up. . .
Prophylaxis . . . . . . . . . . . . . . .
11.10.2. Recommendation for Reproduction . .
11.10.3. Activity and Exercise . . . . . . . . . .
12. Congenitally Corrected Transposition of the
Great Arteries . . . . . . . . . . . . . . . . . . .
12.1. Definition . . . . . . . . . . . . . . . . . . .
12.2. Associated Lesions . . . . . . . . . . . . . .
12.3. Clinical Course . . . . . . . . . . . . . . . .
12.3.1. Presentation in Adulthood: Unoperated .
of the Unoperated Patient . . . . . . . . . .
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12.4.3. Exercise Testing . . . . . . . . . . . . .
12.4.4. Chest X-Ray . . . . . . . . . . . . . . .
12.4.5. Two-Dimensional Echocardiography . .
12.4.6. Magnetic Resonance Imaging . . . . . .
and Follow-Up of Patients With
Congenitally Corrected Transposition
of the Great Arteries . . . . . . . . . . . . .
12.6. Key Issues of Unoperated Patients. . . . . .
12.8. Interventional Therapy . . . . . . . . . . . .
12.8.1. Recommendations for Catheter
Interventions . . . . . . . . . . . . . . .
12.8.2. Initial Surgical Repair . . . . . . . . . .
Intervention. . . . . . . . . . . . . . . .
12.9. Arrhythmias/Pacemaker/
Electrophysiology Testing . . . . . . . . . .
12.10. Recommendations for Postoperative Care .
Prophylaxis . . . . . . . . . . . . . . .
12.10.2. Recommendation for Reproduction . .
12.10.3. Activity . . . . . . . . . . . . . . . . .
13. Ebstein’s Anomaly . . . . . . . . . . . . . . . .
13.1. Definition . . . . . . . . . . . . . . . . . . .
13.2. Clinical Course (Unoperated) . . . . . . . .
13.2.1. Pediatric Presentation . . . . . . . . . .
13.2.2. Initial Adult Presentation . . . . . . . .
13.3. Clinical Features and Evaluation of the
Unoperated Patient . . . . . . . . . . . . . .
Patients With Ebstein’s Anomaly . . . . . .
13.4.3. Chest X-Ray . . . . . . . . . . . . . . .
13.4.4. Echocardiography . . . . . . . . . . . .
Tomography . . . . . . . . . . . . . . .
13.5. Recommendations for Diagnostic Tests . . .
13.6.1. Recommendation for Medical Therapy .
13.6.2. Physical Activity . . . . . . . . . . . . .
13.7. Recommendation for Catheter
Interventions for Adults With
Ebstein’s Anomaly . . . . . . . . . . . . . .
13.7.1. Recommendation for Electrophysiology
Testing/Pacing Issues in Ebstein’s Anomaly.
Interventions . . . . . . . . . . . . . . .
13.7.3. Postoperative Findings . . . . . . . . . .
13.7.4. Expected Postoperative Course . . . . .
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13.8. Problems and Pitfalls . . . . . . . . . . . . . . .e94
13.9. Recommendation for Reproduction . . . . . . .e94
13.10. Recommendation for Endocarditis
Prophylaxis . . . . . . . . . . . . . . . . . . .e95
14. Tricuspid Atresia/Single Ventricle . . . . . . . . . .e95
14.1. Definition . . . . . . . . . . . . . . . . . . . . .e95
14.2. Clinical Course (Unoperated and Palliated) . . .e95
the Unoperated or Palliated Patient . . . . . . .e95
14.3.1. Presentation . . . . . . . . . . . . . . . . .e95
14.3.2. Clinical Examination. . . . . . . . . . . . .e95
14.3.3. Electrocardiogram . . . . . . . . . . . . . .e95
14.3.4. Chest X-Ray . . . . . . . . . . . . . . . . .e96
14.3.5. Echocardiography . . . . . . . . . . . . . .e96
Computed Tomography . . . . . . . . . . .e96
14.3.7. Recommendation for Catheterization
Before Fontan Procedure . . . . . . . . . .e96
14.4. Recommendation for Surgical Options
for Patients With Single Ventricle . . . . . . . .e96
14.5. Recommendation for Evaluation
and Follow-Up After Fontan Procedure . . . . .e97
14.6. Clinical Features and Evaluation . . . . . . . . .e98
14.6.1. Clinical Examination. . . . . . . . . . . . .e98
14.6.2. Electrocardiogram . . . . . . . . . . . . . .e98
14.6.3. Chest X-Ray . . . . . . . . . . . . . . . . .e98
14.6.4. Recommendation for Imaging . . . . . . . .e98
14.7. Recommendation for Diagnostic and
Interventional Catheterization After
Fontan Procedure . . . . . . . . . . . . . . . . .e98
14.7.1. Evaluation of Patients With Protein-Losing
Enteropathy. . . . . . . . . . . . . . . . . .e98
14.7.2. Problems and Pitfalls . . . . . . . . . . . .e99
Strategies for the Patient With
Prior Fontan Repair. . . . . . . . . . . . . . . .e99
14.8.1. Recommendations for
Medical Therapy . . . . . . . . . . . . . . .e99
14.9. Recommendations for Surgery for
Adults With Prior Fontan Repair . . . . . . . .e99
14.10. Key Issues to Evaluate and Follow-Up . . . .e100
14.10.1. Recommendations for Electrophysiology
Testing/Pacing Issues in Single-Ventricle
Physiology and After Fontan Procedure .e100
14.10.2. Other Issues to Evaluate and Follow-Up . .e101
Prophylaxis . . . . . . . . . . . . . . . .e101
14.10.4. Activity . . . . . . . . . . . . . . . . . .e101
14.10.5. Recommendations for Reproduction . . .e102
Appendix 1. Author Relationships With Industry
and Other Entities . . . . . . . . . . . . .e102
Appendix 2. Peer Reviewer Relationships With
Industry and Other Entities . . . . . . . .e103
Appendix 3. Abbreviations List . . . . . . . . . . . . .e105
Appendix 4. Definitions of Surgical Procedures
for the Management of Adults
With CHD . . . . . . . . . . . . . . . . .e105
References . . . . . . . . . . . . . . . . . . . . . . . .e108
ARTICLE IN PRESS
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Preamble
It is important that the medical profession play a central role
in critically evaluating the use of diagnostic procedures and
therapies introduced and tested for detection, management, or
prevention of disease. Rigorous, expert analysis of the available data documenting absolute and relative benefits and risks
of these procedures and therapies can produce guidelines that
improve the effectiveness of care, optimize patient outcomes,
and favorably affect the cost of care by focusing resources on
the most effective strategies.
The American College of Cardiology Foundation (ACCF)
and the American Heart Association (AHA) have jointly
engaged in the production of guidelines in the area of
cardiovascular disease since 1980. The American College of
Cardiology (ACC)/AHA Task Force on Practice Guidelines
is charged with developing, updating, and revising practice
guidelines for cardiovascular diseases and procedures and
directs this effort. Writing committees are charged with
assessing the evidence as an independent group of authors to
develop, update, or revise recommendations for clinical
practice.
Experts in the subject under consideration have been
selected from both organizations to examine subject-specific
data and write guidelines in partnership with representatives
from other medical practitioner and specialty groups. Writing
committees are specifically charged to perform a formal
literature review, weigh the strength of evidence for or
against particular treatments or procedures, and include
estimates of expected health outcomes where data exist.
Patient-specific modifiers, comorbidities, and issues of patient preference that might influence the choice of tests or
therapies are considered, as well as the frequency of
follow-up and cost-effectiveness. When available, information from studies on cost is considered, but data on efficacy
and clinical outcomes constitute the primary basis for recommendations in these guidelines.
The ACC/AHA Task Force on Practice Guidelines makes
every effort to avoid actual, potential, or perceived conflicts
of interest that might arise as a result of industry relationships
or personal interests among the writing committee. Specifically, all members of the writing committee, as well as peer
reviewers of the document, are asked to disclose all such
relationships that might be perceived as real or potential
conflicts of interest. Writing committee members are also
strongly encouraged to declare previous relationships with
industry that might be perceived as relevant to guideline
development. If a writing committee member develops a new
relationship with industry during their tenure, they are required to notify guideline staff in writing. These statements
are reviewed by the parent task force, reported orally to all
members at each meeting of the writing committee, and
updated and reviewed by the writing committee as changes
occur. Please refer to the methodology manual for ACC/AHA
guideline writing committees for further description of the
relationships with industry policy (1). See Appendix 1 for
author relationships with industry and Appendix 2 for peer
reviewer relationships with industry pertinent to this
guideline.
JACC Vol. 52, No. 23, 2008
December 2, 2008:000–000
These practice guidelines are intended to assist healthcare
providers in clinical decision making by describing a range of
generally acceptable approaches for diagnosis, management, and
prevention of specific diseases or conditions. Clinicians should
consider the quality and availability of expertise in the area
where care is provided. These guidelines attempt to define
practices that meet the needs of most patients in most circumstances. The recommendations reflect a consensus of expert
opinion after a thorough review of the available current scientific
evidence and are intended to improve patient care.
Patient adherence to prescribed and agreed upon medical
regimens and lifestyles is an important aspect of treatment.
Prescribed courses of treatment in accordance with these recommendations are only effective if they are followed. Because lack
of patient understanding and adherence may adversely affect
outcomes, physicians and other healthcare providers should
make every effort to engage the patient’s active participation in
prescribed medical regimens and lifestyles.
If these guidelines are used as the basis for regulatory or
payer decisions, the goal is quality of care and serving the
patient’s best interest. The ultimate judgment regarding care
of a particular patient must be made by the healthcare
provider and the patient in light of all of the circumstances
presented by that patient. There are circumstances in which
deviations from these guidelines are appropriate.
The guidelines will be reviewed annually by the ACC/
AHA Task Force on Practice Guidelines and considered
current unless they are updated, revised, or withdrawn from
distribution. The executive summary and recommendations
are published in the December 2, 2008, issue of the Journal
of the American College of Cardiology and December 2,
2008, issue of Circulation. The full-text guidelines are
e-published in the same issue of these journals and posted on
the ACC (www.acc.org) and AHA (htttp://my.americanheart. org)
World Wide Web sites.
Sidney C. Smith, Jr, MD, FACC, FAHA
Chair, ACC/AHA Task Force on Practice Guidelines
1. Introduction
1.1. Methodology and Evidence Review
The recommendations listed in this document are, whenever
possible, evidence-based. Unlike other ACC/AHA practice
guidelines, there is not a large body of peer-reviewed published evidence to support most recommendations, which will
be clearly indicated in the text. An extensive literature survey
was conducted that led to the incorporation of 647 references.
Searches were limited to studies, reviews, and other evidence
conducted in human subjects and published in English. Key
search words included but were not limited to adult congenital heart disease (ACHD), atrial septal defect, arterial switch
operation, bradycardia, cardiac catheterization, cardiac reoperation, coarctation, coronary artery abnormalities, cyanotic
congenital heart disease, Doppler-echocardiography,
d-transposition of the great arteries, Ebstein’s anomaly,
Eisenmenger physiology, familial, heart defect, medical therapy, patent ductus arteriosus, physical activity, pregnancy,
psychosocial, pulmonary arterial hypertension, right heart
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obstruction, supravalvular pulmonary stenosis, surgical therapy, tachyarrhythmia, tachycardia, tetralogy of Fallot, transplantation, tricuspid atresia, and Wolff-Parkinson-White. Additionally, the writing committee reviewed documents related
to the subject matter previously published by the ACC and
AHA. References selected and published in this document are
representative and not all-inclusive.
The committee reviewed and ranked evidence supporting
current recommendations with the weight of evidence ranked
as Level A if the data were derived from multiple randomized
clinical trials involving a large number of individuals. The
committee ranked available evidence as Level B when data
were derived from a limited number of trials involving a
comparatively small number of patients or from welldesigned data analyses of nonrandomized studies or observational data registries. Evidence was ranked as Level C when
the consensus of experts was the primary source of the
recommendation. In the narrative portions of these guidelines, evidence is generally presented in chronological order
of development. Studies are identified as observational,
randomized, prospective, or retrospective. The committee
emphasizes that for certain conditions for which no other
therapy is available, the indications are based on expert
consensus and years of clinical experience and are thus well
supported, even though the evidence was ranked as Level C.
An analogous example is the use of penicillin in pneumococcal pneumonia where there are no randomized trials and only
clinical experience. When indications at Level C are supported by historical clinical data, appropriate references (eg,
case reports and clinical reviews) are cited if available. When
Level C indications are based strictly on committee consensus, no references are cited. The final recommendations for
indications for a diagnostic procedure, a particular therapy, or
an intervention in ACHD patients summarize both clinical
evidence and expert opinion. The schema for classification of
recommendations and level of evidence is summarized in
Table 1, which also illustrates how the grading system
provides an estimate of the size of treatment effect and an
estimate of the certainty of the treatment effect.
1.2. Organization of Committee and
Relationships With Industry
The ACC/AHA Task Force on Practice Guidelines was
formed to create clinical practice guidelines for select cardiovascular conditions with important implications for public
health. This guideline writing committee was assembled to
adjudicate the evidence and construct recommendations regarding the diagnosis and treatment of ACHD. Writing
committee members were selected with attention to ACHD
subspecialties, broad geographic representation, and involvement in academic medicine and clinical practice. The writing
committee included representatives of the American Society
of Echocardiography, Heart Rhythm Society, International
Society for Adult Congenital Heart Disease, Society for
Cardiovascular Angiography and Interventions, and Society
of Thoracic Surgeons.
All members of the writing committee were required to
disclose all relationships with industry relevant to the data
under consideration (1).
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1.3. Document Review and Approval
This document was reviewed by 3 external reviewers nominated from both the ACC and the AHA, as well as reviewers
from the American Society of Echocardiography, Canadian
Cardiovascular Society, Heart Rhythm Society, International
Society for Adult Congenital Heart Disease, and Society of
Thoracic Surgeons, and 20 individual content reviewers
which included reviewers from the ACC Congenital Heart
Disease and Pediatric Cardiology Committee and the AHA
Congenital Cardiac Defects Committee. All reviewer relationships with industry information were collected and distributed to the writing committee and are published in this
document (see Appendix 2 for details).
This document was approved for publication by the governing bodies of the ACCF and the AHA and endorsed by the
American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease,
Society for Cardiovascular Angiography and Interventions,
and Society of Thoracic Surgeons.
1.4. Epidemiology and Scope of the Problem
Remarkable improvement in survival of patients with congenital heart disease (CHD) has occurred over the past half
century since reparative surgery has become commonplace.
Since the advent of neonatal repair of complex lesions in the
1970s, an estimated 85% of patients survive into adult life.
The 32nd Bethesda Conference report in 2000 estimated that
there were approximately 800 000 adults with CHD in the
United States (2,3). Given modern surgical mortality rates of
less than 5%, one would expect that in the next decade,
almost 1 in 150 young adults will have some form of CHD.
In particular, there are a substantial number of young adults
with single-ventricle physiology, systemic right ventricles
(RVs), or complex intracardiac baffles who are now entering
adult life and starting families. Young adults have many
psychological, social, and financial issues that present barriers to proactive health management. The infrastructure that is
provided to most pediatric cardiology centers, namely, case
management by advanced practice nurses and social workers,
is largely lacking within the adult healthcare system. Recognizing the compound effects of a complex and unfamiliar
disease with an unprepared patient and healthcare system, the
ACC/AHA ACHD Guideline Writing Committee has determined that the most immediate step it can take to support the
practicing cardiologist in the care of ACHD patients is to
provide a consensus document that outlines the most important diagnostic and management strategies and indicates
when referral to a highly specialized center is appropriate. To
provide ease of use, the writing committee constructed this
document by lesion type and in each section included
recommendations on topics common to all lesions (eg,
infective endocarditis [IE] prophylaxis, pregnancy, physical
activity, and medical therapy).
1.5. Recommendations for Delivery of Care
and Ensuring Access
CLASS I
1. The focus of current healthcare access goals for ACHD patients should include the following:
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Table 1.
Applying Classification of Recommendations and Level of Evidence
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*Data available from clinical trials or registries about the usefulness/efficacy in different subpopulations, such as gender, age, history of diabetes, history of prior
myocardial infarction, history of heart failure, and prior aspirin use. A recommendation with Level of Evidence B or C does not imply that the recommendation is weak.
Many important clinical questions addressed in the guidelines do not lend themselves to clinical trials. Even though randomized trials are not available, there may
be a very clear clinical consensus that a particular test or therapy is useful or effective.
†In 2003, the ACC/AHA Task Force on Practice Guidelines developed a list of suggested phrases to use when writing recommendations. All guideline
recommendations have been written in full sentences that express a complete thought, such that a recommendation, even if separated and presented apart from
the rest of the document (including headings above sets of recommendations), would still convey the full intent of the recommendation. It is hoped that this will
increase readers’ comprehension of the guidelines and will allow queries at the individual recommendation level.
a. Strengthening organization of and access to transition clinics
for adolescents and young adults with CHD, including funding
of allied healthcare providers to provide infrastructure comparable to that provided for children with CHD. (Level of Evidence: C)
b. Organization of outreach and education programs for patients, their families, and caregivers to recapture patients
leaving pediatric supervisory care or who are lost to followup. Such programs can determine when and where further
intervention is required. (Level of Evidence: C)
c. Enhanced education of adult cardiovascular specialists and
pediatric cardiologists in the pathophysiology and management of ACHD patients. (Level of Evidence: C)
d. A liaison with regulatory agencies at the local, regional,
state, and federal levels to create programs commensurate
with the needs of this large cardiovascular population.
(Level of Evidence: C)
2. Health care for ACHD patients should be coordinated by regional
ACHD centers of excellence that would serve as a resource for
the surrounding medical community, affected individuals, and
their families (Table 2).
a. Every academic adult cardiology/cardiac surgery center
should have access to a regional ACHD center for consultation and referral. (Level of Evidence: C)
b. Each pediatric cardiology program should identify the ACHD
center to which the transfer of patients can be made. (Level
of Evidence: C)
c. All emergency care facilities should have an affiliation with a
regional ACHD center. (Level of Evidence: C)
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Table 2. Personnel and Services Recommended for Regional
ACHD Centers
Type of Service
Personnel/Resources
Cardiologist specializing in ACHD
One or several 24/7
Congenital cardiac surgeon
Two or several 24/7
Nurse/physician assistant/nurse
practitioner
One or several
Cardiac anesthesiologist
Several 24/7
Echocardiography*
Two or several 24/7
● Includes TEE, intraoperative TEE
Diagnostic catheterization*
Yes, 24/7
Noncoronary interventional
catheterization*
Yes, 24/7
Electrophysiology/pacing/AICD
implantation*
One or several
Exercise testing
● Echocardiography
● Radionuclide
● Cardiopulmonary
● Metabolic
Cardiac imaging/radiology*
● Cardiac MRI
● CT scanning
● Nuclear medicine
Multidisciplinary teams
● High-risk obstetrics
● Pulmonary
hypertension
● Heart failure/transplant
● Genetics
● Neurology
● Nephrology
● Cardiac pathology
● Rehabilitation services
● Social services
● Vocational services
● Financial counselors
Information technology
● Data collection
● Database support
● Quality assessment
review/protocols
*These modalities must be supervised/performed and interpreted by physicians with expertise and training in congenital heart disease.
ACHD indicates adult congenital heart disease; 24/7, availability 24 hours
per day, 7 days per week; TEE, transesophageal echocardiography; AICD,
automatic implantable cardioverter defibrillator; MRI, magnetic resonance
imaging; and CT, computed tomography.
3. ACHD patients should carry a complete medical “passport”
that outlines specifics of their past and current medical history, as well as contact information for immediate access to
data and counsel from local and regional centers of excellence.
4. Care of some ACHD patients is complicated by additional
special needs, including but not restricted to intellectual
incapacities or psychosocial limitations that necessitate the
inclusion of designated healthcare guardians in all medical
decision making. (Level of Evidence: C)
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5. Every ACHD patient should have a primary care physician. To
ensure and improve communication, current clinical records
should be on file with the primary care physician and a local
cardiovascular specialist, as well as at a regional ACHD center;
patients should also have copies of relevant records. (Level of
Evidence: C)
6. Every cardiovascular family caregiver should have a referral
relationship with a regional ACHD center so that all patients
have geographically accessible care. (Level of Evidence: C)
The need for delivery of appropriate healthcare to ACHD
patients largely remains unmet. The 32nd Bethesda Conference report in 2000 recommended organizing ACHD care
within a regional and national system of specialized adult
CHD centers of excellence that would disseminate care,
provide education, orchestrate research and innovation, and
serve as a general resource for the region within this model
(3) (Table 2). Such a system has been demonstrated to
improve care for adults with similar chronic severe illness,
such as severe heart failure, for which measures of improvement surrounding uniformity of care within a guidelines
framework, medical and surgical outcomes, decreased visits,
improved patient quality of life, cost containment, data
collection and knowledge dissemination, trials of new therapeutics, and enhanced insurability have been achieved.
A detailed integration of caregivers and support was
suggested by the 32nd Bethesda Conference, from primary
care to patient advocacy groups to the highest levels of
subspecialty resources. The pediatric cardiology team should
be paired with adult cardiologists to facilitate transition of
care for affected individuals. It was recommended that all
ACHD patients have a provider who constitutes the medical
“home,” as well as at least 1 overreaching visit with a
cardiologist with advanced training and experience with
ACHD patients (4). A pattern of visits, follow-up, surgical
care, subspecialty (catheterization, electrophysiology) cardiac
and noncardiac care, emergent medical access, data coordination and dissemination, referral guidance, and education
(with recognized regional variation) was suggested for
ACHD patients and their caregivers based on the degree of
medical complexity. Improvement in patient outcome was
stressed via extension of physician caregiving by team-based
clinical care associates (midlevel practitioners) with expertise
in the management of ACHD patients.
The 32nd Bethesda Conference described 3 levels of
training of adult cardiovascular specialists in terms of experience in ACHD (5). Task Force 9 covered training in the care
of adult patients with CHD and differentiated 3 levels of
training and expected expertise. These levels were subsequently incorporated into the COCATS (Core Cardiology
Training Symposium) III document (6). Level 1 training
consists of basic exposure to CHD patients and organized
educational material on CHD. To enable proper recognition
of the problems of adults with CHD and to be cognizant of
when specialized referral is needed, all medical cardiology
fellows should achieve level 1 training in CHD. Level 1
trainees should be instructed by a faculty member with level
2 or 3 training or its equivalent. A pediatric cardiologist
should also be involved in these training programs.
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Table 3. Types of Adult Congenital Heart Disease of Great
Complexity*
Table 4. Diagnoses in Adult Patients With Congenital Heart
Disease of Moderate Complexity*
Conduits, valved or nonvalved
Aorto–left ventricular fistulas
Cyanotic congenital heart (all forms)
Anomalous pulmonary venous drainage, partial or total
Double-outlet ventricle
Atrioventricular septal defects (partial or complete)
Eisenmenger syndrome
Coarctation of the aorta
Fontan procedure
Ebstein’s anomaly
Mitral atresia
Infundibular right ventricular outflow obstruction of significance
Single ventricle (also called double inlet or outlet, common, or primitive)
Ostium primum atrial septal defect
Pulmonary atresia (all forms)
Patent ductus arteriosus (not closed)
Pulmonary vascular obstructive disease
Pulmonary valve regurgitation (moderate to severe)
Transposition of the great arteries
Pulmonary valve stenosis (moderate to severe)
Tricuspid atresia
Sinus of Valsalva fistula/aneurysm
Truncus arteriosus/hemitruncus
Sinus venosus atrial septal defect
Other abnormalities of atrioventricular or ventriculoarterial connection not
included above (ie, crisscross heart, isomerism, heterotaxy syndromes,
ventricular inversion)
Subvalvular AS or SupraAS (except HOCM)
*These patients should be seen regularly at adult congenital heart disease
centers.
Modified from Warnes CA, Liberthson R, Danielson GK, et al. Task force 1:
the changing profile of congenital heart disease in adult life. J Am Coll Cardiol.
2001;37:1170 –5 (3).
Tetralogy of Fallot
Ventricular septal defect with:
Absent valve or valves
Aortic regurgitation
Coarctation of the aorta
Mitral disease
Right ventricular outflow tract obstruction
Level 2 training represents additional training for fellows
who plan to care for adult patients with CHD so that they may
acquire expertise in the clinical evaluation and management
of such patients. Level 2 training generally requires 1 year of
training in ACHD: either a 1-year formal program at a
regional or tertiary care ACHD center or cumulative experience of 12 months through repetitive rotations or electives as
a cardiology fellow with experienced ACHD cardiologists.
This training should prepare the individual to be wellequipped for the routine care of even moderate to complex
ACHD and to recognize when more advanced consultation or
referral is advisable.
Level 3 training represents the level of knowledge needed
by those graduates who wish to make a clinical and academic/
research commitment to this field and not only become
competent in the care of the entire spectrum of adult patients
with CHD but also participate in the teaching and research of
ACHD. Level 3 trainees generally require 2 years of training.
These 24 months may either be consecutive or cumulative
experience, and some recognition can be given to overall
experience in CHD, be it pediatric, adolescent, or adult (eg,
prior pediatric cardiology training or rotations). Such level 3
training would be sufficient to clinically manage the most
complex ACHD patient in a regional or tertiary care center, to
pursue an academic career, to train others in the field, or to
direct an ACHD center program (6).
The 32nd Bethesda Conference report in 2000 highlighted
the need for healthcare professionals, patients, and their
families, together with regulatory agency representatives, to
develop a strategic plan for organized advocacy for ACHD
patients (3,4). This ACC/AHA Guideline Committee, working in parallel with but independently of a workgroup of the
National Heart, Lung, and Blood Institute charged with
recommending key research opportunities in ACHD patients,
Straddling tricuspid/mitral valve
Subaortic stenosis
*These patients should be seen periodically at regional adult congenital heart
disease centers.
2001;37:1170 –5 (3).
AS indicates aortic stenosis; HOCM, hypertrophic obstructive cardiomyopathy; and SupraAS, supravalvular aortic stenosis.
recognizes key actions that are currently and urgently required to improve care access for ACHD patients.
1.5.1. Recommendations for Access to Care
CLASS I
1. An individual primary caregiver or cardiologist without specific
training and expertise in ACHD should manage the care of
adults with complex and moderate CHD (Tables 3 and 4) (7)
only in collaboration with level 2 or level 3 ACHD specialists.
(4) (Level of Evidence: C)
2. For ACHD patients in the lowest-risk group (simple CHD; Table
5), cardiac follow-up at a regional ACHD center is recommended at least once to formulate future needs for follow-up.
3. Frequent follow-up (generally every 12 to 24 months) at a
regional ACHD center is recommended for the larger group of
adults with complex and moderate CHD. A smaller group of
adults with very complex CHD will require follow-up at a
regional ACHD center at a minimum of every 6 to 12 months.
4. Stabilized adult patients with CHD who require admission for
urgent or acute care should be transferred to a regional ACHD
center, except in some circumstances after consultation with
the patient’s primary level 2 or level 3 ACHD specialist. (4)
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Table 5. Diagnoses in Adult Patients With Simple Congenital
Heart Disease*
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1.5.2. Recommendations for Psychosocial Issues
CLASS I
Native disease
Isolated congenital aortic valve disease
Isolated congenital mitral valve disease (eg, except parachute valve, cleft
leaflet)
Small atrial septal defect
Isolated small ventricular septal defect (no associated lesions)
Mild pulmonary stenosis
Small patent ductus arteriosus
Repaired conditions
Previously ligated or occluded ductus arteriosus
Repaired secundum or sinus venosus atrial septal defect without residua
Repaired ventricular septal defect without residua
*These patients can usually be cared for in the general medical community.
2001;37:1170 –5 (3).
5. Diagnostic and interventional procedures, including imaging (ie,
echocardiography, magnetic resonance imaging [MRI], or computed tomography [CT]), advanced cardiac catheterization, and
electrophysiology procedures for adults with complex and moderate CHD should be performed in a regional ACHD center with
appropriate experience in CHD and in a laboratory with appropriate personnel and equipment. Personnel performing such procedures should work as part of a team with expertise in the surgical
and transcatheter management of patients with CHD. (Level of
Evidence: C)
6. Surgical procedures that require general anesthesia or conscious sedation in adults with moderate or complex CHD
should be performed in a regional ACHD center with an anesthesiologist familiar with ACHD patients. (Level of Evidence: C)
7. ACHD patients should be transferred to an ACHD center for
urgent or acute care of cardiac problems. (Level of Evidence: C)
8. Adult patients with complex or high-risk CHD should be transferred to an ACHD center for urgent or acute noncardiac
problems. (Level of Evidence: C)
9. An ACHD specialist should be notified or consulted when a
patient with simple or low-risk CHD is admitted to a non-ACHD
center. (Level of Evidence: C)
After leaving the pediatric healthcare system, a percentage
of ACHD patients do not succeed in achieving continuous
cardiovascular care (8,9). Accordingly, ACHD patients are
underserved compared with other heart disease populations.
Barriers to healthcare access exist for ACHD patients, including the following:
●
●
●
●
●
●
Failure to have guided transition from pediatric to adult care
Lack of sufficient numbers of specialty clinics and regional
centers
Inadequate access to or availability of insurance (10)
Insufficient education of patients and caregivers regarding
disease nature and follow-up (11,12)
Inadequate system of management of patient’s cognitive or
psychosocial impairment
Inadequate infrastructure for case management.
1. Individual and family psychosocial screening (including knowledge assessment of cardiac disease and management; perceptions about health and the impact of CHD; social functioning
with family, friends, and significant others; employment and
insurability status; and screening for cognitive, mood, and
psychiatric disorders) should be part of the care of ACHD
patients. Advanced practice nurses, physician assistants, psychologists, and social workers should play an integral role in
assessing and providing for the psychosocial needs of ACHD
patients. (Level of Evidence: C)
2. Informational tools should be developed before transfer from
adolescent to adult care and used for patient/family education
regarding CHD, including the following elements, to be provided in electronic format:
a. Demographic data, including physician contact. (Level of
Evidence: C)
b. Description of CHD, surgeries, interventional procedures,
and most recent diagnostic studies. (Level of Evidence: C)
c. Medications. (Level of Evidence: C)
3. Additional health maintenance screening and information
should be offered to ACHD patients as indicated during each
visit to their ACHD healthcare provider, including the following:
a. Endocarditis prophylaxis measures (refer to Section 1.6,
Recommendations for Infective Endocarditis). (Level of Evidence: C)
b. Exercise prescription, guidelines for exercise, and athletic
participation for patients with CHD should reflect the published recommendations of the 36th Bethesda Conference
report. (5) (Level of Evidence: C)
c. Contraception and pregnancy information, including education regarding risk of CHD in offspring (for men and women).
d. General medical/dental preventive care (eg, smoking cessation, weight loss/maintenance, hypertension/lipid screening, oral care, and substance abuse counseling). (Level of
Evidence: C)
e. Recommended follow-up with cardiology. (Level of Evidence: C)
4. Vocational referral and health insurance information should be
offered to ACHD patients during the transition period and
refreshed at the time of their initial consultation in a tertiary
referral center and intermittently as indicated by their social
situation. (Level of Evidence: C)
5. A formal transition process should be used to provide optimal
transfer of patients into ACHD care. This process should begin
by 12 years of age and should be individualized on the basis of
the patient’s maturity level, with the goal being to transition
and ultimately transfer the patient into adult care settings
depending on the stability of the disease and psychosocial
status. (Level of Evidence: C)
6. A psychological evaluation should be obtained if an adult’s mental
competency is in question and no appointed adult surrogate is
available. (Level of Evidence: C)
7. All ACHD patients should be encouraged to complete an
advance directive, ideally at a time during which they are not
extremely ill or hospitalized, so that they can express their
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wishes thoughtfully in a less stressful setting and communicate these wishes to their families and caregivers. (Level of
Evidence: C)
The degree of psychological impact caused by CHD
remains ill defined. Results from decades of literature are
divided with regard to the psychological functioning of
ACHD patients. Methodologically, the challenges of controlling for medical, social, demographic, genetic, and cognitive
variables that interact with psychological development make
it difficult to draw general conclusions from studies (13,14);
however, important clues regarding psychosocial outcomes
have been useful in guiding medical therapy and thus form
the foundation for comprehensive management of ACHD
patients.
Early studies of psychosocial function dealt only with
children and often reflected populations that confronted
unrepaired CHD for longer periods of time. Thus, research
focused on the “sick child” and recognized a recurrent theme
of parental overprotection, as well as profiling the effect CHD
had on the family unit (15,16). Maternal perceptions, accurate
or not, were far more closely correlated to maladjustment in
children than was medical severity of the child’s illness
(13,17). Intuitively, the psychopathology of children with
CHD, imparted by physiological stress during early childhood, disruption of family dynamics, altered school and peer
structure, and other unmet childhood milestones, may leave
cognitive and psychological marks that carry over into adult
life. Although there is evidence that argues for earlier
reparative surgery to minimize childhood insecurities and
morbidity (18), a correlation between the severity of CHD
and psychological adjustment has not been substantiated
(16,17,19 –22). Moreover, new information is emerging about
cognitive functioning in adolescents who underwent surgical
repair in infancy with cardiopulmonary bypass that indicates
some deficits in planning and self-management (23–27).
Long-term behavioral outcome studies after the neonatal
arterial switch operation (ASO) for transposition of the great
arteries (TGA) have demonstrated highly specific disabilities
that might impact the quality of self-care (28). Longer
survival and decreasing morbidity among ACHD patients has
made quality-of-life issues much more central to the understanding and management of this population (14,29 –39).
Some quality-of-life issues pertinent to ACHD patients,
regardless of severity of disease, include independent living
arrangements, education, employment, sports, health and life
insurance acquisition, contraception, genetic counseling, and
pregnancy concerns (40).
Circumstantial depression and anxiety are understandable
in older adolescents and young adults with chronic health
problems. One pilot study suggests that up to one third of
ACHD patients may have a psychiatric disorder, with depression and anxiety being most prominent (41), whereas only
20% of the general population are afflicted with psychiatric
illness (42). Accordingly, a careful assessment of depressive
symptoms and their possible overlap with symptoms of
medical illness or side effects of medications must be part of
the clinical evaluation of ACHD patients (13,14).
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1.5.3. Transition of Care
Physical and emotional maturity is the primary requirement
for transfer of adolescent or young adult patients into adult
care environments. The age at which this occurs varies and
may range from the mid-teens to the mid-20s, depending on
the patient. However, the process of transitioning, that is,
preparing young patients for successful transfer to an adult
healthcare provider at a later time, should begin by the age of
12 years (43).
Strategies for transfer of patients with CHD into adult care
settings are well described (44,45) and use a stepwise
approach to establishing autonomy and understanding one’s
cardiac problem and lifestyle issues important to long-term
stability of CHD. Pediatric clinicians can reinforce autonomy
by focusing their communication on the patient, so that the
teen years serve as an ongoing “workshop” in which the
ultimate goal is accepting ownership of and responsibility for
one’s cardiac disease. Parents should take an active role in
fostering independence in their teenagers. The use of support
groups and educational meetings geared toward parents and
ACHD patients offers a prime opportunity for parents to
discuss their fears and openly communicate reality-based
strategies for approaching difficult topics with their children.
National support organizations for CHD and ACHD patients
now exist and provide resources for families (eg, the Congenital Heart Information Network and the Adult Congenital
Heart Association). Regional tertiary centers for the care of
ACHD patients may also provide conferences that serve this
purpose. Some centers provide transitional support meetings
so that adolescents and parents can familiarize themselves
with the goals of ACHD care. Despite the availability of
structured resources for parents, patients, and families with
CHD, the ultimate responsibility still rests with clinicians to
meet the educational needs of their young patients. Topics
that should be discussed early in childhood and repeatedly
through the teens, 20s, and beyond include a description of
the cardiac defect and surgeries (including use of diagrams);
medications; exercise prescription; risk modification; health
maintenance and follow-up recommendations; vocational and
educational recommendations; insurance information; and
information about genetics, contraception, and pregnancy.
This information should be given in verbal and written form
and provided to the patient in an electronic or paper format
(45,46). This is a reference tool that can be a constant
resource for the patient long term and can assist healthcare
providers who are not familiar with the patient. The use of
advanced practice nurses and physician assistants in pediatric
and ACHD settings optimizes the facilitation of the transition
process from pediatrics to adult cardiology, identification of
patient needs, screening and referral for psychosocial problems, and education and counseling of patients and families (47).
Pertinent medical records, including diagrams of cardiac
defects and operations, operative and procedural reports,
recent physical examination, electrocardiograms (ECGs), and
echocardiograms, should be provided to all cardiologists
involved in the care of a patient with CHD. In addition, once
patients are properly educated and aware of basic terminology pertaining to their own cardiac status, they should be
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offered copies of their medical reports, which implies and
imparts responsibility and autonomy regarding their
condition.
1.5.4. Exercise and Athletics
Exercise restrictions correlate with internalization of fear in
young people with CHD (48). The ability to exercise is a
fundamental measure of quality of life, perceived capacity for
social acceptance, employment, sexual relations, and procreation. Young people with CHD may experience exercise
limitations for many reasons, including their underlying
cardiac reserve, physical deconditioning, and lack of exercise
experience in childhood; poor coordination related to coexisting disabilities; misperceptions about restrictions; lack of
interest; and anxiety (43,44). Current symptoms only account
for approximately 30% of all barriers to exercise. Recommendations regarding physical training, exercise, and athletics are core to the comprehensive patient education that
should begin by early adolescence. An individual exercise
prescription (one that accounts for physical limitations, developmental challenges, risk modification, health concerns
such as obesity, and personal preferences) needs to be
provided and updated regularly so that the beneficial utility of
exercise is not lost among a list of restrictions. Guidelines for
physical activity and exercise in patients with CHD are
outlined in the 36th Bethesda Conference in “Eligibility:
Recommendations for Competitive Athletes with Cardiovascular Abnormalities.” (49) Currently, however, there are few
data concerning activity guidelines for the nonathlete.
The finding of diminished aerobic capacity in all groups
with CHD (50 –58) validates the importance of comparative
testing over time in patients until reference values can be
researched further (54). However, improved oxygen uptake
during exercise is only 1 parameter of the effect of training
and cannot be used alone to determine whether the main goals
of exercise have been achieved (59). Beyond improved
oxygen consumption and tolerance of physical activity, physical training of children and adolescents can also result in
decreased withdrawal and somatic complaints (60,61). This
supports the need for organized exercise programs for young
people with CHD, particularly adolescents who view physical
activity as the defining focus of a healthy lifestyle despite
restrictions from competitive athletics.
1.5.5. Employment
Entering the job market and establishing a career is arguably
the most important developmental milestone of a young
adult’s life (30). Careful consideration of the individual’s
physical, mental, and psychological disposition will help in
identifying the right career choice. This is a discussion that
should include the cardiologist, so that realistic limitations are
explored and misconceptions eliminated. Vocational planning
should take place early in adolescence so that appropriate
educational options can be pursued long before the patient
enters the work force. Ideally, cognitive evaluation should be
performed at or before 5 years of age so that the appropriate
educational track can be determined. Early childhood intervention has been shown to result in improved employment
status during adult life (62). The goal of clinicians caring for
e15
those with CHD should be to view every patient as employable and avoid the temptation to accept the status quo when
a patient is receiving social security disability income or other
disability assistance through Medicaid or Medicare. Governmental assistance programs may perpetuate long-term disability for those fearful of losing their health insurance
coverage (63). Reports from more than a decade ago projected that approximately 10% of ACHD patients would be
totally disabled (64). Furthermore, 8% to 13% of ACHD
patients were receiving public assistance or living as a
dependent with relatives (64,65). Important legislation has
focused on bringing individuals with disabilities into the
work force. Ultimately, with improving longevity in patients
with CHD and better surgical outcomes, the proportion of
physically disabled ACHD patients is expected to decrease.
Seeking assistance from the state employment development department (the names of these programs vary from
state to state) can be an important step in finding jobs for
adults with disabilities. These programs offer job and training
referrals, counseling, and job search assistance and workshops. Federal programs provide for vocational rehabilitation
for disabled individuals, as well as hiring and placement into
jobs appropriate for their level of disability.
The Americans With Disabilities Act of 1990 prohibits
discrimination with respect to hiring, promotion, or termination of employees on the basis of disability. Therefore,
ACHD patients are not required to disclose their cardiac
condition to a prospective employer unless physical restrictions imposed by their cardiac disease would limit their
ability to satisfy the job description (63). The Family and
Medical Leave Act of 1993 states that covered employers
must grant eligible employees up to a total of 12 workweeks
of unpaid leave during any 12-month period when the
employee is unable to work because of a serious health
condition or to take care of an immediate family member with
a serious health condition (66).
The Work Incentives Improvement Act of 1999 (also
known as the Medicaid Buy-In Program) is designed to
promote employment and economic self-sufficiency for individuals with disabilities. Under this federal legislation, states
can amend their Medicaid programs to enable individuals
with disabilities to obtain coverage under Medicaid while
giving incentives for these individuals to seek and maintain
employment. Advocates in each ACC and AHA chapter
should work with state Medicaid programs and state legislators to define appropriate health disabilities eligible for
coverage (10).
1.5.6. Insurability
In the 1990s, studies indicated that up to 20% of ACHD
patients were uninsured and that most health insurance
policies were individual plans rather than group policies. The
heterogeneity of CHD over the life span contributes to the
difficulties faced by insurers when assigning risk. Regional
tertiary centers specializing in the care of ACHD patients
must collaborate in multicenter studies to define and publish
survival data in a format amenable to life-table analysis (67).
In addition, the use of clinical practice guidelines, such as
those outlined in this ACC/AHA document, will further direct
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insurers, primary care providers, and cardiologists on the
appropriate use of diagnostic testing, as well as the appropriate time for referral.
Today, the most affordable way to obtain health insurance
is via a group policy, through one’s employer, or with health
management organizations. With national attention now focused on the need for regional tertiary care for patients with
complex CHD, health maintenance organizations are being
held accountable for finding appropriate specialized care for
ACHD patients. Patients, with their physician’s support, need
to be their own advocates within the health maintenance
organization system and demand referrals if they believe their
cardiologist is ill equipped to manage their complex cardiac
care. National patient support organizations such as the Adult
Congenital Heart Association have made it their mission to
educate adults via newsletters, the Internet, and the like about
the need for specialized cardiac care in ACHD patients with
moderate to severe disease, and they provide an extensive
referral network of ACHD specialists.
Currently, at least 30 states offer high-risk health insurance
plans through “risk pools.” This provides a safety net for
individuals who are denied health insurance because of a
preexisting medical condition. More than 250 000 enrollees
have been able to obtain comprehensive health insurance
protection via these risk pools since the first pools were
started in 1976. Risk pools are state created, are nonprofit,
and usually do not require tax dollars for operational purposes. Eligible individuals must prove state residency and
prove they have been rejected for similar health insurance
with similar premiums by at least 1 insurer. Healthcare
providers caring for ACHD patients should be aware of
options available in their state. Healthcare providers need to
give accurate health information to insurers in a prompt
fashion so that a fair evaluation of the patient’s risk status can
be made.
Health and life insurance can be elusive to ACHD patients.
Regardless of severity, ACHD patients face a significantly
higher risk of being denied life insurance than their peers
without CHD (10,40,68). Recent studies found that more
than one third of ACHD patients were refused life insurance compared with 4% of age-matched peers without
CHD, with no regard to severity of defect (40). A useful
resource for state-by-state consumer guidelines about getting and keeping health insurance can be accessed via the
Internet at www.healthinsuranceinfo.net.
1.5.7. Congenital Syndromes
Congenital syndromes, including coexisting neurological and
cognitive deficits, can further complicate the psychological
and social adjustment of ACHD patients. Approximately 18%
of congenital heart defects are associated with a congenital
syndrome or chromosomal abnormality (69). Among chromosomal abnormalities in infants with cardiovascular defects,
81% are Down syndrome, which has a CHD prevalence of
40%. Adults with Down syndrome represent a growing
number of the patients seen in tertiary ACHD clinics and
require careful attention to coexisting diseases and special
care issues. Hypothyroidism, leukemia, Alzheimer’s disease,
depression, atlantoaxial subluxation, obesity, and sleep apnea
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are common in Down syndrome, and regular screening for
these ailments should be performed. Often, sedation or
general anesthesia is necessary for routine procedures, such
as dental cleaning, Pap smears, or prolonged diagnostic
procedures that require immobility. The risks of anesthesia
and procedures need to be carefully reviewed by CHD
specialists and discussed with the patient.
Approximately 15% of patients with tetralogy of Fallot and
other conotruncal defects have chromosome 22q11.2 deletion, most commonly manifested as DiGeorge syndrome but
also presenting as velocardiofacial (Shprintzen) syndrome
and conotruncal anomaly face (Takao) syndrome (70). Patients with a history of type B interrupted aortic arch or
truncus arteriosus also have a high incidence of DiGeorge
syndrome. Many patients with this chromosome deletion
show impairment in social function. Coexisting diseases
associated with these overlapping syndromes include schizophrenia, mental disability, deafness, immune deficiencies,
endocrinopathies, and clubbed foot (70).
Williams syndrome is a developmental disorder that involves connective tissue, the central nervous system, and
supravalvular AS (SupraAS); it has been associated with a
chromosome deletion in band 7q11.23 (70). Most Williams
syndrome patients have a lack of social inhibition and some
degree of mental disability that complicates planning and
self-management. Adults with other syndromes, including
Noonan and Turner syndromes, have varying degrees of
cognitive deficits. Patients with Turner syndrome have a
variety of noncardiovascular problems, including ovarian and
thyroid disorders, inflammatory bowel disease, pigmented
and melanotic nevi, and sensorineural deficits.
Because the cardiologist may be the only regular healthcare provider for adults who have congenital syndromes and
chromosomal abnormalities in association with their CHD,
careful screening and appropriate referrals (such as endocrinology, genetic counseling, psychiatry, and vocational rehabilitation) should take place. Because of the multiplicity of
comorbidities and the potential for impact on cardiovascular
management, there should be clarity about which healthcare
provider is serving as the medical “home.” Whenever possible, the ACHD specialist should work closely with a primary
physician who accepts this responsibility. Although many of
these patients are dependent on others for long-term care,
some are able to live independently and require sensitive
counseling regarding healthcare maintenance and risks. Advice regarding sexual activity and contraception is essential,
even if the patient does not request it. Genetic counseling
should be offered to all patients.
1.5.8. Medical/Ethical/Legal Issues
Some ACHD patients, especially those with associated syndromes, may be incapable of providing informed consent to
the degree that meets ethical and legal standards of understanding their situation, understanding the risks associated
with the decision at hand, and communicating a decision
based on that understanding. Adults who may require a legal
surrogate to facilitate informed consent are those who are
cognitively impaired, such as those with Down syndrome,
and those with impaired consciousness due to severe illness.
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If an adult’s mental competency is in question, and no
appointed adult surrogate is available, a psychological evaluation should be requested (63). The issue of legal guardianship in adults with significant mental disability becomes an
ethical and legal challenge when 1 or both parents die or
become incapacitated by illness with no accommodation for
transfer of guardianship. Guidance in addressing these issues
should be included as part of the transition education and
reinforced thereafter.
Advance directives can assist family members and healthcare providers in understanding a patient’s wishes if they are
incapable of speaking for themselves (71). All ACHD patients should be encouraged to complete an advance directive,
ideally at a time during which they are not morbidly ill or
hospitalized, so that they can express their wishes in a less
stressful setting.
1.6. Recommendations for Infective
Endocarditis
CLASS I
1. ACHD patients must be informed of their potential risk for IE
and should be provided with the AHA information card with
instructions for prophylaxis. (Level of Evidence: B)
2. When patients with ACHD present with an unexplained febrile
illness and potential IE, blood cultures should be drawn before
antibiotic treatment is initiated to avoid delay in diagnosis due
to “culture-negative” IE. (Level of Evidence: B)
3. Transthoracic echocardiography (TTE) should be performed
when the diagnosis of native-valve IE is suspected. (Level of
Evidence: B)
4. Transesophageal echocardiography (TEE) is indicated if TTE
windows are inadequate or equivocal, in the presence of a
prosthetic valve or material or surgically constructed shunt, in
the presence of complex congenital cardiovascular anatomy,
or to define possible complications of endocarditis (eg, sepsis,
abscess, valvular destruction or dehiscence, embolism, or
hemodynamic instability). (72) (Level of Evidence: B)
5. ACHD patients with evidence of IE should have early consultation with a surgeon with experience in ACHD because of the
potential for rapid deterioration and concern about possible
infection of prosthetic material. (Level of Evidence: C)
CLASS IIa
1. Antibiotic prophylaxis before dental procedures that involve
manipulation of gingival tissue or the periapical region of teeth
or perforation of the oral mucosa is reasonable in patients with
CHD with the highest risk for adverse outcome from IE,
including those with the following indications:
a. Prosthetic cardiac valve or prosthetic material used for
cardiac valve repair. (Level of Evidence: B)
b. Previous IE. (Level of Evidence: B)
c. Unrepaired and palliated cyanotic CHD, including surgically
constructed palliative shunts and conduits. (Level of Evidence: B)
d. Completely repaired CHD with prosthetic materials, whether
placed by surgery or by catheter intervention, during the first
6 months after the procedure. (Level of Evidence: B)
e. Repaired CHD with residual defects at the site or adjacent to
the site of a prosthetic patch or prosthetic device that
inhibits endothelialization. (Level of Evidence: B)
e17
2. It is reasonable to consider antibiotic prophylaxis against IE
before vaginal delivery at the time of membrane rupture in select
patients with the highest risk of adverse outcomes. This includes
patients with the following indications:
cardiac valve repair. (Level of Evidence: C)
b. Unrepaired and palliated cyanotic CHD, including surgically
constructed palliative shunts and conduits. (Level of Evidence: C)
CLASS III
1. Prophylaxis against IE is not recommended for nondental
procedures (such as esophagogastroduodenoscopy or colonoscopy) in the absence of active infection. (Level of Evidence: C)
The clinical setting and presentation of endocarditis have
changed over the last 50 years, in part owing to technical
advances (eg, cardiac surgery, hemodialysis), the use of
prosthetic devices and indwelling lines, the increasing prevalence of intravenous drug abuse, the emergence of resistant
organisms, and the continued development of increasingly
potent antibiotics (73–78). True surgical cures of congenital
cardiovascular disorders are infrequent, and almost all patients who have undergone surgery are left with some form of
residua or sequelae, many of which predispose to IE
(73,74,77– 82).
Epidemiological studies of IE have reported underlying CHD
in 11% to 13% of cases (83,84). Li and Somerville reported
that IE accounted for 4% of admissions to a specialized adult
congenital heart service (85). Including pediatric data, certain
unoperated and operated cardiac lesions may be more susceptible to infection (Table 6). Tetralogy of Fallot, TGA,
unrepaired ventricular septal defect (VSD), patent ductus
arteriosus (PDA), and bicuspid aortic valves (BAVs) with
aortic valve stenosis or aortic regurgitation (AR) are susceptible to IE. (73,74,79,81,86 –102) Patients who have had
surgical palliation of CHD (eg, systemic–to–pulmonary artery shunts) or various types of reparative surgery (often
requiring prosthetic materials or valves, conduit insertion, or
conduit replacement) have major predisposing conditions for
IE (74,79,81,103).
The Second Natural History Study of Congenital Heart
Defects reported on the incidence of IE in young adults with
aortic stenosis (AS), pulmonary stenosis (PS), and VSD
(104). The incidence rate was nearly 35-fold the populationbased rate; viridans streptococcus was the predominant organism. The stenotic pulmonary valve was rarely affected,
with only 1 case in this series. For VSDs, the risk of IE before
surgical closure was more than twice that for the surgically
closed VSD. In addition, the presence of AR independently
increased the risk of IE in patients with VSD, whether
managed medically or surgically. Of those with a surgically
repaired VSD who developed IE, at least 22% were known to
have a residual VSD leak.
Li and Somerville (85) reported IE in the grown-up
congenital heart population comprising 185 patients (214
episodes) during 2 periods, 1983 to 1993 and 1993 to 1996,
divided into unoperated or palliated (group I) and operated
definitive repair or valve repair/replacement (group II). They
noted no IE in atrial septal defect (ASD), closed VSD, patent
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Table 6. Cardiac Conditions Associated With the Highest Risk
of Adverse Outcome From Endocarditis for Which Prophylaxis
With Dental Procedures Is Reasonable
Condition
Congenital Specific Condition*
● Previous infective
endocarditis
● Unrepaired cyanotic CHD,
including palliative shunts
and conduits
● Prosthetic cardiac
valve or prosthetic
material used for
cardiac valve repair
● Completely repaired
congenital heart defect with
prosthetic material or
device, whether placed by
surgery or by catheter
intervention, during the first
6 months after the
procedure†
● Repaired CHD with residual
defects at the site or
adjacent to the site of a
prosthetic patch or
prosthetic device that inhibit
endothelialization
● Cardiac transplant recipients
who develop cardiac
valvulopathy
*Except for the conditions listed above, antibiotic prophylaxis is no longer
recommended for any other form of CHD.
†Prophylaxis is reasonable because endothelialization of prosthetic material
occurs within 6 months after the procedure.
Modified with permission to include footnotes from Wilson et al. Prevention
of infective endocarditis: guidelines from the American Heart Association: a
guideline from the American Heart Association Rheumatic Fever, Endocarditis,
and Kawasaki Disease Committee, Council on Cardiovascular Disease in the
Young, and the Council on Clinical Cardiology, Council on Cardiovascular
Surgery and Anesthesia, and the Quality of Care and Outcomes Research
Interdisciplinary Working Group. Circulation. 2007;116:1736 –54 (72).
CHD indicates congenital heart disease.
ductus, isolated PS, or unrepaired Ebstein’s anomaly or after
Fontan-type or Mustard operations. IE in group I was most
commonly represented by VSD (24%), left ventricular outflow tract (LVOT) lesions (17%), and mitral valve disorders
(13%) and in group II by LVOT lesions (35%), repaired
tetralogy of Fallot (19%), and atrioventricular (AV) defects
(14%). Of the 185 patients, 87 (47%) had a known predisposing event (dental procedure or sepsis in group I, 33%;
cardiovascular surgery in group II, 50%). Diagnosis was
delayed (from onset of symptoms to time of diagnosis) in
group I by 60 days and in group II by 29 days.
Niwa et al in 2005 (105) reported IE in 170 pediatric and
69 adult patients from 1997 to 2001. They noted prior cardiac
surgery in 199 patients with IE, 88 of whom had surgery for
cyanotic cardiovascular malformations. IE was left-sided in
46% and right-sided in 51%; the most common organisms
were streptococci (50%) and staphylococci (37%). Surgery
during IE was needed in 26% for large vegetations (45%) and
heart failure (29%). Complications were seen in 48.5%.
Mortality was 8% for medical treatment alone and 11.1% for
those who also required surgery. In 33.3% of patients,
conditions and procedures associated with IE were identified
that preceded IE; the most common were dental manipulation
(37.2%) and cardiovascular surgery (25.6%), followed by
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pneumonia (14.1%). Of these cases, only 28.2% had received
antibiotic prophylaxis.
Di Filippo et al reported in 2006 (106) on 153 episodes of
IE in CHD diagnosed with the revised Duke criteria, showing
an increasing rate with 81 episodes from 1966 to 1989 (3.5
per year) and 72 episodes from 1990 to 2001 (6 per year).
During the second period, there were more adults (40% later
versus 9% earlier). Of interest, CHD was known in 122
patients before IE but was unrecognized in 31. Of the 153
episodes of IE, 39 occurred in patients who had repaired
lesions, 35 in patients who had palliation (usually complex
disease), and 79 in patients who had unoperated CHD.
Tetralogy of Fallot with IE decreased from 12% to 3%, and
complex cyanotic disease increased from 14% to 28%; the
proportion of aortic valve anomalies and small VSDs increased. Dental procedures as a presumed cause of IE were
more common during the later period (33% versus 20%
earlier), cutaneous infection rose to 17% (from 5% earlier),
and postoperative infection appeared less frequently later
(11%) than earlier (21%). The streptococcus group continued
to represent the most prevalent organisms, followed by
staphylococci. Their data emphasized that current targets of
prevention of IE should include complex cyanotic lesions,
lesions repaired with prosthetic material, and small VSDs.
The pathogenesis of IE in part requires damaged or
traumatized endothelium and a portal of entry of bacteria into
the bloodstream. Bacteria may bind to platelets in the blood
pool and then be deposited at the site of vascular endothelial
damage. The infective lesion usually occurs at the lowpressure end of a high-gradient lesion at the site of impact of
a high-velocity jet. For example, vegetations in conjunction
with aortic coarctation may occur in the downstream descending aorta. With aortic valve disease, not only may
vegetations occur on the ventricular surface of the valve, but
the regurgitant jet impacting on the mitral valve may cause
secondary vegetation. Usual sites of vegetations with a
restrictive VSD occur where the high-velocity left-to-right jet
impacts on the right side of the heart (ie, tricuspid valve septal
leaflet or mural RV endocardium). The consequences of the
infective vegetation depend on the site or structure involved
and the virulence of the organism. Valvular destruction with
significant valvular regurgitation or fistulous connections can
cause heart failure. Endarteritis (as with patent ductus and
coarctation) can cause aneurysm formation with potential for
rupture. Embolization of vegetative material can cause arterial obstruction (eg, stroke) and possible abscess formation,
and right-sided embolization to the lung can mimic pneumonia. Immunologic reactions can trigger glomerulonephritis or
vasculitis as a result of the deposition of circulating immune
complexes in the small vessels in skin (Janeway lesion and
Osler node) (75).
Many cases of clinically suspected IE are difficult to
diagnose with certainty because of altered immune response,
prior antibiotic exposure, or indolent organisms and in some
patients with acute right-sided IE in whom the systemic and
immune responses have not developed (73,75,76,80,81). Now
widely accepted, Durack et al incorporated 2-dimensional
echocardiography as a means of demonstration of vegetations
(77,107). The Duke criteria defined 2 major criteria (positive
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Table 7. Congenital Cardiac Lesions and Perioperative Risk
for Noncardiac Surgery
High risk
Pulmonary hypertension, primary or secondary
Cyanotic congenital heart disease
New York Heart Association class III or IV
Severe systemic ventricular dysfunction (ejection fraction less than 35%)
Severe left-sided heart obstructive lesions
Moderate risk
Prosthetic valve or conduit
Intracardiac shunt
Moderate left-sided heart obstruction
Moderate systemic ventricular dysfunction
blood culture with typical microorganisms and evidence of
endocardial involvement, eg, a typical vegetation on an
echocardiogram) and 6 minor criteria (ie, predisposition,
fever, vascular phenomena, immunologic phenomena, suggestive microbiological evidence, and echocardiographic
findings consistent with endocarditis but not meeting major
echocardiographic criteria), with categories defined as definite, possible, and rejected (107). Echocardiography is crucial
in the diagnosis of IE. In general, a TTE study is useful in
confirming the presence of vegetation, but often, the sensitivity is too low to rule out its absence. If a TTE study is
equivocal, or in the presence of a prosthetic valve or complex
congenital cardiovascular anatomy in which transthoracic
windows may be inadequate, TEE is indicated (73 to 79, 81,
108 to 112). TEE is particularly important in the search for IE
in the adolescent and adult for evaluation of the thoracic
aorta, ventricular outflow tracts, and valved conduits and for
visualization of the entire ventricular septum. Given the
complexity of many of the malformations and the wide array
of surgical palliations and repairs, however, performance and
interpretation of echocardiography must be done by those
with expertise in the native and altered postoperative (109)
anatomy (103,108,110 –112).
A delay in diagnosis of IE carries the risk of significant
morbidity and mortality. A high index of suspicion for IE in
any patient with operated or unoperated CHD is a key to early
diagnosis (74,78,79,81,103,113–115). Cardiac lesions and
their relative risk of developing IE are listed in Table 7.
An antecedent event is identified in a minority of cases
with IE (74,79). Awadallah et al identified predisposing
events in 56%, with unprotected dental work, recent open
heart surgery, and skin infections being the most common
(116). Gersony et al found that an antecedent event could be
identified in 32% of cases; these events included dental work,
previous bacterial infection (ie, pharyngitis, sinusitis, enteritis, or pelvic inflammatory disease), and cardiac catheterization (101).
Additional issues more specific for patients with CHD and
risk for IE may not be well recognized by many practitioners
(72,74,78 – 80). Patients with unoperated cyanotic heart disease frequently have acne or have spongy, friable gums;
appropriate care is necessary to diminish the risk of bacteremia. Epistaxis and hemoptysis are frequent in the cyanotic
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patient; nasal cautery may be a risk factor for IE. Nail biting
is a problem, with the possibility of local infection being a
focus for bacteremia. High-risk behaviors (eg, intravenous
drug abuse, body piercing, or tattoos) not uncommon in
adolescents and young adults in particular are well-known
risk factors, especially for acute staphylococcal IE on the
right side of the heart, and the patient should be informed of
the risks of these activities. The use of intrauterine devices for
female contraception is somewhat controversial because of
concern about endocarditis, although the rate of infection is
only approximately 1.4 times normal, provided that sexual
relationships are monogamous. The AHA recommendations
do not advise antibiotic prophylaxis for patients before
genitourinary procedures, but because of the high risk for
adverse outcome in patients with prosthetic cardiac valves
and those with cyanotic CHD and the potential for infection
in the setting of a complex vaginal delivery, this committee
proposed that antibiotics might be considered in those highrisk patients at the time of membrane rupture (recognizing
that proof of efficacy of prophylaxis is not available) (117).
In all cases of IE, cultures should be obtained to try to
establish the causative organism before antibiotics are initiated (73,75,78,82,112). CHD patients who present with fever
and potential IE should have blood cultures drawn before
antibiotic therapy is initiated to avoid subsequent falsenegative blood cultures (78,103,118). Recognizing that initial
therapy is usually parenteral and usually intravenous, one
should recall that cyanotic patients with right-to-left shunts
have the possibility of “paradoxical” systemic embolization
and, as such, risk of stroke. Air filters should be used on the
line with meticulous attention to avoiding injection of air
bubbles. Details of all aspects of medical and antimicrobial
management of IE are beyond the scope of this review and are
addressed by a separate AHA working group, as well as other
authors (78,81,99,119,120). Collaboration with an infectious
disease specialist is invaluable. Prompt referral of the adult
patient with CHD to a specialized center is usually indicated
because hemodynamic deterioration may be rapid, and surgical treatment of often complicated anatomy and/or reoperation may be required (78,82). Early consultation with a
cardiac surgeon with experience treating adults with CHD is
appropriate. Surgical intervention is considered in patients
with uncontrolled congestive heart failure, continued emboli,
medically uncontrolled infection, prosthetic material infection, and development of heart block (73,75,78,80,112–
114,121). Management decisions regarding infected prosthetic valves or conduits in which the duration of preoperative
antibiotic therapy must be balanced against the risk of
reoperation must be made in collaboration with the surgeon.
Ultimately, to reduce costs without risking efficacy, prolonged home parenteral antibiotics may be required after the
initial inpatient hospitalization.
Prevention of IE includes nonchemotherapeutic and chemotherapeutic methods (74,75,78,80,81,103). Clinical judgment and discretion are required. It is always worthwhile to
strive to provide evidence-based medical care. However, the
Cochrane Collaboration did not provide evidence proving
whether or not penicillin prophylaxis is effective protection
against bacterial endocarditis in those with lesions considered
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at risk for development of IE and who were about to undergo
an invasive dental procedure. They also noted that there is
lack of evidence to support published guidelines in this area
or to show whether the potential harm or cost of penicillin
outweighs the benefit (122).
On the basis of a “revised” assessment regarding the risk of
bacteremia-induced endocarditis, new guidelines for the prevention of endocarditis were published in 2006 by the
Working Party of the British Society for Antimicrobial
Chemotherapy (123). The 2006 guidelines recommend that
antimicrobial prophylaxis for dental procedures be confined
to those with (1) previous IE, (2) prosthetic cardiac valves, or
(3) surgically constructed pulmonary shunts or conduits. In
contrast, for bacteremic nondental procedures, the 2006
group expanded the “dental risk” list to also include (4)
complex CHD (except not secundum ASD, which is presumably isolated and uncomplicated), (5) complex LVOT obstruction, including AS and BAVs, (6) acquired valvulopathy,
and (7) mitral valve prolapse in the presence of echocardiographic “substantial leaflet pathology and regurgitation.” The
British Society for Antimicrobial Chemotherapy justifies its
decisions by shifting the emphasis from “procedure-related
bacteremia” to “cumulative bacteremia.”
The 2007 AHA guidelines for the prevention of endocarditis have substantially changed the recommendations for
antibiotic prophylaxis on the basis of a consensus of expert
opinions (72). The new, simplified recommendations are
based on the proposition that most bacteremia occurs during
activities of daily living, that IE is more likely to result from
long-term cumulative exposure to these daily random bacteremias than from procedural bacteremias, and that proof is
lacking that prophylaxis prevents any (or at most a very small
number) cases of IE. They posit that the risks of antibiotic
adverse events in the patient (allergic reactions) and the
emergence of resistant organisms exceed any proven benefit
of antibiotic prophylaxis against IE.
The new AHA guidelines appropriately emphasize maintenance of oral health and hygiene to reduce daily bacteremia
and underscore that this is more important than any dental
antibiotic prophylaxis. Accordingly, the 2007 AHA writing
committee for the updated guidelines on prevention of endocarditis concluded that antibiotic prophylaxis for dental procedures likely to induce procedural bacteremia (those that
involve manipulation of gingival tissue or the periapical
region of the teeth or perforation of the gingival mucosa)
should be confined to cardiac conditions associated with the
most significant adverse outcomes should IE develop (72).
They included in this group those with previous IE; those
with prosthetic cardiac valves or surgically constructed conduits or shunts; those with unrepaired cyanotic CHD or CHD
repaired with prosthetic material or devices (until 6 months
after the procedure); those with repaired CHD with residual
defects at or adjacent to the site of a prosthetic patch or
device; and cardiac transplant patients who develop valvulopathy. They specifically recommend no IE prophylaxis
before gastrointestinal or genitourinary procedures, a major
departure from previous guidelines. The new AHA guidelines
have engendered some considerable controversy and may
violate long-standing patient and provider expectations and
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practice. Concern has been expressed that changes in preexisting recommendations were not based on new data or
randomized trials and that absence of proof of efficacy and
safety cannot be used as proof of absence of efficacy and
safety of antimicrobial prophylaxis (124). The present ACHD
Guideline Committee understands that there may be reluctance to deviate from prior recommendations for patients with
some forms of CHD. This reluctance may be especially true
for patients with BAV or coarctation of the aorta. In select
circumstances, the committee understands that some clinicians and some patients may still feel more comfortable
continuing with IE prophylaxis. Accordingly, this committee
recommends that healthcare providers discuss the rationale
for these new changes with their patients, including the lack
of scientific evidence demonstrating proven benefit for IE
prophylaxis. In those settings, the clinician should determine
that the risks associated with antibiotics are low before
continuing a prophylaxis regimen. Over time, and with
continuing education, the committee anticipates growing
acceptance of the new guidelines among both provider and
patient communities.
This ACHD writing committee proposes that the “highrisk” group in whom it is reasonable to give antibiotic
prophylaxis before dental procedures would include the
following: (1) those with a prosthetic cardiac valve; (2) those
with prior IE; (3) those with unrepaired and palliated cyanotic
CHD, including surgically constructed palliative shunts and
conduits; (4) those with repaired CHD with prosthetic material or device, whether placed by surgery or by catheter
intervention, during the first 6 months after the procedure;
and (5) those with repaired CHD with residual defects at the
site or adjacent to the site of a prosthetic patch or prosthetic
device that inhibit endothelialization.
We emphasize that nonchemotherapeutic methods are particularly important in the adolescent or young adult patient
with CHD, among whom nail biting, acne, and problems with
dental health are common. Oral prevention starts with meticulous oral care and routine preventive care by a dentist or oral
hygienist. A patient with cyanotic heart disease often has
spongy, friable gums, and a soft-bristle toothbrush must be
used. Female contraception should be planned with the risks
and benefits of intrauterine devices kept in mind.
The patient’s knowledge of the need for and the type of IE
prophylaxis is also an important issue (77,103,125). Caldwell
et al noted that fewer than 50% of families knew about
endocarditis prevention or precautions, and even fewer understood why prophylaxis was considered indicated (91).
Cetta and Warnes reported in 1995 from their specialized
ACHD clinic that those with CHD had inadequate knowledge
about their cardiac lesion, about IE, and about prophylaxis
(125). With aggressive education in their clinic, patient
knowledge improved, but they emphasized that educational
efforts need to be reinforced regularly. A patient should be
given a detailed explanation of his or her diagnosis and the
rationale for IE prevention, and the patient’s specific regimen
for dental procedures should be provided. Information about
the signs and symptoms of IE should also be provided. At
every subsequent visit, it should again be verified that the
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patient knows what is required for dental care and prophylaxis (74).
1.7. Recommendations for Noncardiac
Surgery
CLASS I
1. Basic preoperative assessment for ACHD patients should include systemic arterial oximetry, an ECG, chest x-ray, TTE, and
blood tests for full blood count and coagulation screen. (Level
of Evidence: C)
2. It is recommended that when possible, the preoperative evaluation and surgery for ACHD patients be performed in a
regional center specializing in congenital cardiology, with
experienced surgeons and cardiac anesthesiologists. (Level of
Evidence: C)
3. Certain high-risk patient populations should be managed at
centers for the care of ACHD patients under all circumstances,
unless the operative intervention is an absolute emergency.
High-risk categories include patients with the following:
a. Prior Fontan procedure. (Level of Evidence: C)
b. Severe pulmonary arterial hypertension (PAH). (Level of
Evidence: C)
c. Cyanotic CHD. (Level of Evidence: C)
d. Complex CHD with residua such as heart failure, valve
disease, or the need for anticoagulation. (Level of Evidence: C)
e. Patients with CHD and malignant arrhythmias. (Level of
Evidence: C)
4. Consultation with ACHD experts regarding the assessment of risk
is recommended for patients with CHD who will undergo noncardiac surgery. (Level of Evidence: C)
5. Consultation with a cardiac anesthesiologist is recommended
for moderate- and high-risk patients. (Level of Evidence: C)
Performance of any surgical procedure in ACHD patients
carries a greater risk than in the normal population. Certain
surgical procedures are frequently required in cyanotic patients, such as intervention for gallstones, scoliosis, and, less
commonly, cerebral abscess. The risk for noncardiac surgery
depends on the nature of the underlying CHD, the extent of
the procedure, and the urgency of intervention. Table 7 lists
lesions at moderate and high risk for noncardiac surgery.
A thorough evaluation of the patient with CHD should be
undertaken before anticipated noncardiac surgery. Basic preoperative assessment includes an ECG, chest x-ray, TTE, and
blood tests for full blood count and coagulation screen. It is
recommended, when possible, that the preoperative evaluation and surgery be performed in an ACHD center by
experienced surgeons and cardiac anesthesiologists. This
allows close perioperative follow-up by an ACHD specialist.
The specialist team should always be involved in the care of
the complex and cyanotic adult patient with CHD, because
this minimizes avoidable errors that can cause important
morbidity or even death (126).
Select high-risk patient populations should be managed at
centers for the care of ACHD patients under all circumstances, unless the operative intervention is an absolute
emergency. These patients include those with prior Fontan
procedure, severe PAH, cyanotic CHD, or complex CHD
e21
with residua such as heart failure, valve disease, or the need
for anticoagulation.
Patients with cyanotic CHD, especially when associated
with PAH, are at highest risk from noncardiac surgery (126).
The bleeding risk can be reduced by preoperative phlebotomy
if the hematocrit is more than 65% (127). Anesthetic management is critical, because a fall in systemic vascular
resistance can worsen hypoxia, resulting in hemodynamic
collapse. Long operations associated with hemodynamic
instability and that require large-volume fluid replacement
are associated with increased perioperative mortality. Fluid
balance is critical in cyanotic and single-ventricle patients
and those with heart failure because of occult renal failure in
these patients.
Postoperatively, patients with CHD may need intensive
care unit monitoring facilities even for relatively minor
procedures. Nursing staff should be informed about the
specific issues related to the CHD. Special issues that should
be considered include administration of endocarditis prophylaxis, the need for anticoagulation around the time of the
procedure, anticipation of special problems related to the
underlying hemodynamics, filters for intravenous lines in
cyanotic patients, prevention of venous thrombosis, monitoring of renal function, special care with drug administration,
and the reduced arm blood pressure measurement in patients
with prior classic Blalock-Taussig shunts. There is no evidence that cyanotic heart disease per se leads to liver disease
(refer to Section 10, Tetralogy of Fallot, and Section 14,
Tricuspid Atresia/Single Ventricle, for information regarding
long-standing central venous hypertension leading to cardiac
cirrhosis). There is increased prevalence of hepatitis C infection in adult patients who underwent CHD surgery before
screening in 1992, and therefore these patients should be
screened (128).
1.8. Recommendations for Pregnancy
and Contraception
CLASS I
1. Patients with CHD should have consultation with an ACHD
expert before they plan to become pregnant to develop a plan
for management of labor and the postpartum period that
includes consideration of the appropriate response to potential
complications. This care plan should be made available to all
providers. (Level of Evidence: C)
2. Patients with intracardiac right-to-left shunting should have
fastidious care of intravenous lines to avoid paradoxical air
embolus. (Level of Evidence: C)
3. Prepregnancy counseling is recommended for women receiving
chronic anticoagulation with warfarin to enable them to make
an informed decision about maternal and fetal risks. (129–131)
(Level of Evidence: B)
CLASS IIa
1. Meticulous prophylaxis for deep venous thrombosis, including
early ambulation and compression stockings, can be useful for
all patients with intracardiac right-to-left shunt. Subcutaneous
heparin or low-molecular-weight heparin is reasonable for prolonged bed rest. Full anticoagulation can be useful for the
high-risk patient. (Level of Evidence: C)
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CLASS III
1. The estrogen-containing oral contraceptive pill is not recommended for ACHD patients at risk of thromboembolism, such as
those with cyanosis related to an intracardiac shunt, severe
PAH, or Fontan repair. (Level of Evidence: C)
Congenital malformations now represent the most common
cause of maternal morbidity and mortality from heart disease
in North America. Better assessment and management of this
group of patients is likely to make a substantial improvement
in outcomes for mother and baby (132).
Both men and women with ACHD should have a thorough
understanding of the risks of transmitting CHD to their
offspring. Counseling by an ACHD expert before pregnancy
is important and should include genetic evaluation and,
specifically for women, assessment of potential fetal risk, risk
of prematurity or low birth weight in the offspring, review of
medications that may be deleterious to the fetus, appropriate
management of anticoagulation, and discussion of potential
maternal complications (132). If pregnancy occurs, fetal
echocardiography should be obtained and its consequences
discussed (132).
The outcome of pregnancy is favorable in most women
with CHD provided that functional class and systemic ventricular function are good. PAH presents a serious risk during
pregnancy, particularly when the pulmonary pressure exceeds
70% of systemic pressure, irrespective of functional class.
Events often occur after delivery (133). The need for full
anticoagulation during pregnancy, although not a contraindication, poses an increased risk to both mother and fetus (134).
The relative risks and benefits of the different anticoagulant
approaches need to be discussed fully with the prospective
mother. There is a small group of patients with complex CHD
or high-risk disorders in whom pregnancy is either dangerous
or contraindicated owing to the risk to mother or fetus. If
pregnancy occurs and continues with any of these disorders,
these high-risk patients should be managed and delivered in
specialized centers with multidisciplinary expertise and experience in CHD, obstetrics, anesthesiology, and neonatology. A coordinated care pathway for supervision of delivery
and the postpartum period needs to be developed and in place
by the third trimester and made available to all caregivers and
to the patient. A normal vaginal delivery or an assisted
delivery is usually feasible and may be preferable for patients
with CHD. Cesarean delivery is recommended in patients
with CHD for obstetric reasons and for women fully anticoagulated with warfarin at the time of delivery due to the risk
of fetal intracranial hemorrhage.
Medications should be used only when necessary in any
pregnant patient. Certain medications are contraindicated
during pregnancy; these medications include angiotensinconverting enzyme (ACE) inhibitors and angiotensin receptor
blockers. These medications cause congenital and renal
disorders in the fetus when given during pregnancy; therefore, they should be discontinued before pregnancy occurs or
early during pregnancy if possible (135). Warfarin should be
used only after full discussion with the patient about the risks
of using warfarin during pregnancy (136).
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Although endocarditis is a recognized risk for maternal
morbidity and mortality, endocarditis prophylaxis around the
time of delivery is not universally recommended for patients
with structural heart disease, because some believe that the
risk of bacteremia is low. Others routinely administer antibiotics because it is not known in advance whether or not
instrumentation will be required. Thus, there is no consensus
on this point (117). Antibiotics should be considered for those
at highest risk of an adverse outcome and, when appropriate,
given as the membranes rupture. Intravenous amoxicillin and
gentamicin should be considered for women with high-risk
anatomy or previous history of endocarditis (see Section 1.6,
Recommendations for Infective Endocarditis).
1.8.1. Contraception
It is the duty of the ACHD specialist to provide or otherwise
make available informed advice on contraception, including
discussion of risks. There are limited data on the safety of
various contraceptive techniques in ACHD patients. The
estrogen-containing oral contraceptive pill is generally not
recommended in ACHD patients at risk of thromboembolism,
such as those with cyanosis, prior Fontan procedure, atrial
fibrillation, or PAH. In addition, this form of contraceptive
therapy may upset anticoagulation control. However, medroxyprogesterone, the progesterone-only pills, and levonorgestrel may also cause fluid retention and should be used with
caution in patients with heart failure. Depression and breakthrough bleeding may prevent the use of the progesteroneonly pills, and there is a higher failure rate than with
combined oral contraceptives.
Levonorgestrel, barrier methods, or tubal ligation are the
recommended contraceptive methods for women with cyanotic CHD and PAH. The potential complications of the
“morning after pill” (levonorgestrel “plan B”) should be
explained to those at risk of acute fluid retention. Tubal
ligation, although the most secure method of contraception,
can be a high-risk procedure in patients with complex CHD
or those with PAH. Hysteroscopic sterilization (Essure) may
be reasonable for high-risk patients (137). Sterilization of a
male partner of a woman with CHD should only occur after
full explanation of the prognosis to the patient. The specialist
in the ACHD clinic needs to interact with both the general
practitioner and the gynecologist to provide optimal advice
regarding contraception. The risk of endocarditis with intrauterine devices in women with CHD is controversial, and
recommendations should be individualized on the basis of
discussions between the cardiologist and gynecologist.
Breast-feeding is safe in women with CHD. Women
requiring cardiovascular medications should be aware that
many of the medications will cross into breast milk and
should clarify the potential effect of medications on the infant
with a pediatrician.
1.9. Recommendations for Arrhythmia
Diagnosis and Management
CLASS I
1. Complete and appropriate noninvasive testing, as well as clear
knowledge of the specific anatomy and review of all surgical
and procedural records, is recommended before electrophysio-
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2.
3.
4.
5.
logical testing or device placement is attempted in ACHD
patients. (Level of Evidence: C)
Decisions regarding tachycardia management in ACHD patients should take into account the broad cardiovascular
picture, particularly repairable hemodynamic issues that might
favor a surgical or catheter-based approach to treatment.
Catheter ablation procedures for ACHD patients should be
performed at centers where the staff is experienced with the
complex anatomy and distinctive arrhythmia substrates encountered in congenital heart defects. (Level of Evidence: B)
Pacemaker and device lead placement (or replacement) in
ACHD patients should be performed at centers where the staff
is familiar with the unusual anatomy of congenital heart
defects and their surgical repair. (Level of Evidence: B)
Epicardial pacemaker and device lead placement should be
performed in all cyanotic patients with intracardiac shunts who
require devices. (Level of Evidence: B)
CLASS IIa
1. It is reasonable to recommend the use of an implantable
cardioverter defibrillator for any patient who has had a cardiac
arrest or experienced an episode of hemodynamically significant or sustained ventricular tachycardia (VT). (Level of Evidence: C)
2. Pacemaker implantation can be beneficial in ACHD patients
with bradyarrhythmias and may be helpful in overdrive pacing in
patients with difficult-to-control tachyarrhythmias (see ACC/
AHA/HRS 2008 Guidelines for Device-Based therapy of Cardiac Rhythm Abnormalities). (138) (Level of Evidence: B)
CLASS IIb
1. Pacemaker implantation may be beneficial for asymptomatic
adult patients with resting heart rates of less than 40 beats per
minute or abrupt pauses in excess of 3 seconds. (Level of
Evidence: C)
Cardiac arrhythmias are a major source of morbidity and
mortality for ACHD patients. Although rhythm disorders can
often be observed in adults with unrepaired or palliated
defects, the most difficult cases usually involve patients who
have undergone prior intracardiac repairs, especially when
this reparative surgery was performed relatively late in life
(139,140). In this setting, the electrical pathology stems from
the unique and complex myocardial substrates created by
septal patches and suture lines in combination with cyanosis
and abnormal pressure/volume status of variable duration.
Virtually the entire spectrum of rhythm disturbances is
manifested in these patients, including some disorders that are
specific to the anatomic defect or the surgical technique used
for repair (Table 8).
The optimal management strategy for many of these
arrhythmias is as yet undetermined. The dramatic evolution
of interventional electrophysiology in recent years, including
techniques such as catheter or surgical ablation and implantation of antitachycardia devices, has broadened the list of
therapeutic options significantly, but much of the literature in
this field is still limited to small institutional series and
anecdotal case reports. In the absence of large prospective
outcome trials, current policies for arrhythmia treatment often
involve extrapolation from studies of more conventional
Table 8.
e23
Atrial Septal Defects and Associated Lesions
Type of Atrial Septal Defect
Secundum
Associated Lesions
● Pulmonic stenosis
● Mitral valve prolapse
● Partial anomalous pulmonary
venous connection
Primum
● Cleft mitral valve
● Discrete subaortic stenosis
Sinus venosus
venous return
Coronary sinus
venous return
● Persistent left superior vena cava
types of adult heart disease, such as ischemic myopathy. This
approach, although a useful starting point, can underestimate
the unique anatomic and physiological challenges of the
ACHD patient. More organized multicenter research is
needed in this area, as is more aggressive cross-training of
electrophysiologists from both pediatrics and internal medicine to meet the special needs of these patients. Furthermore,
until knowledge of these conditions is more widely disseminated, it is reasonable to recommend that interventional
arrhythmia procedures be performed at centers where the
staff is experienced with the complex anatomy and distinctive
arrhythmia substrates encountered in congenital heart defects.
1.9.1. Management of Tachyarrhythmias:
Wolff-Parkinson-White Syndrome
Accessory pathways can complicate certain forms of CHD,
especially Ebstein’s anomaly of the tricuspid valve (141).
Tachycardia symptoms may begin in childhood but become
increasingly problematic in adult years, when atrial dilation
or surgical scars predispose the patient to atrial flutter or atrial
fibrillation with potential for rapid conduction over an accessory pathway. An attempt at definitive therapy with catheter
ablation has become the standard of care for these patients.
However, compared with simple accessory pathway ablation
in a structurally normal heart, the acute success rates are
reported to be lower and the risk of recurrence higher in
patients with anatomic defects (141–143). These differences
appear to relate to the challenges of distorted anatomic
landmarks, abnormal location for the AV node, and a high
incidence of multiple pathways in the CHD population.
Intraoperative accessory pathway ablation can be considered
in the patient with Ebstein’s anomaly referred for operative
intervention for tricuspid valve disease. This approach has
been demonstrated to be safe and effective (144).
1.9.2. Intra-Atrial Reentrant Tachycardia or
Atrial Flutter
The most common form of tachycardia seen in the ACHD
patient population is macroreentry within atrial muscle. This
arrhythmia usually surfaces as a late postoperative disorder,
and in children, it has been associated with chronotropic
incompetence. Although it may arise after nearly any procedure that involves a right atriotomy (even simple closure of
an ASD), the incidence is clearly highest after the Mustard,
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Warnes et al.
Senning, and Fontan operations, in which as many as 30% to
50% of patients can be expected to develop a symptomatic
episode during extended follow-up (144,145). The term
“intra-atrial reentrant tachycardia” (IART) has become the
customary designation for this arrhythmia to distinguish it
from classic atrial flutter seen in structurally normal hearts
(146 –148). Whereas typical atrial flutter involves a very
predictable circuit around the tricuspid annulus that results in
the familiar ECG appearance of sawtooth flutter waves at a
rate of 300 beats per minute, IART can involve novel circuits
around surgical scars and patches that generate a much wider
spectrum of atrial rates and P-wave contours. Generally,
IART tends to be slower than typical flutter, with atrial rates
in the range of 170 to 250 beats per minute (144). In the
setting of a healthy AV node, these rates will frequently allow
a pattern of 1:1 AV conduction that may result in hemodynamic instability, syncope, or possibly death (149 –151).
Even if the ventricular response rate is safely titrated, sustained IART of long duration can be responsible for thromboembolic events.
Once IART is recognized, acute interruption is easily
accomplished with either electrical cardioversion, overdrive
pacing (150), or administration of certain class I or class III
antiarrhythmic drugs (152). The far more difficult challenge
is prevention of recurrence and adequate assessment of
hemodynamic status that might predispose to recurrent
tachycardia. Chronic antiarrhythmic drugs are still used in
many cases, but the general experience with pharmacological
therapy for this condition has been discouraging (149,153),
which has led to a growing preference for nonpharmacological options at most centers.
Pacemaker implantation can be useful for those patients
who have concomitant sinus node dysfunction as a prominent
component of their clinical picture. Simply increasing the
atrial rate to an appropriate level for the hemodynamic status
can often result in marked reduction in IART frequency
(150), while at the same time making it safer to prescribe
medications that might aggravate bradycardia (138). Pacemakers with advanced programming features that incorporate
atrial tachycardia detection and automatic burst pacing may
also be beneficial in select cases (150,155) but carry the risk
of accelerating the atrial rate and must thus be used cautiously
in patients with robust AV conduction. Newer-generation
implantable cardioverter defibrillators equipped with algorithms for both atrial tachycardia and VT detection and
treatment, including atrial antitachycardia pacing and lowenergy shocks for atrial tachycardia, have also been used
successfully in a small number of ACHD patients with
recurrent IART.
Catheter ablation has been adopted by many institutions as
an early intervention for recurrent IART. The technique has
evolved rapidly in terms of mapping accuracy and effectiveness, particularly since the introduction of 3-dimensional
mapping technology for improved circuit localization
(156,157) and irrigated-tip or large-tip ablation catheters for
more effective lesion creation (158). With current technology, acute success rates of nearly 90% can be achieved with
catheter ablation, although later tachycardia recurrence is still
disappointingly common (159). The recurrence risk appears
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to be particularly high in the Fontan population of patients,
who tend to have multiple IART circuits and the thickest/
largest atrial dimensions. Although still far from perfect,
ablation results for IART are likely to improve with continued advances in technology and even now are superior to the
degree of control obtained with medications alone.
If the above measures fail to prevent IART recurrence, or
if a patient with IART is returning to the operating room for
hemodynamic reasons, consideration should be given to
surgical ablation during a right atrial Maze operation. This
procedure is used most commonly for the Fontan population
with the most refractory variety of IART and is usually
combined with revision of the Fontan connection or conversion from an older atriopulmonary anastomosis to a cavopulmonary connection. Results are encouraging, with very low
rates of IART recurrence (160), but the surgical risks must be
weighed against the electrophysiological benefit.
1.9.3. Atrial Fibrillation
Although far less common than IART in ACHD patients,
atrial fibrillation is no less difficult to treat. It occurs most
often in patients with congenital AS, mitral valve disease, or
palliated single ventricles (161). Management principles are
similar to atrial fibrillation encountered in other forms of
heart disease, beginning with medical therapy for anticoagulation and ventricular rate control as needed, followed by
electrical cardioversion. Class III antiarrhythmic agents may
offer protection against recurrence of atrial fibrillation for
some patients, but as in the case of IART, drug therapy has
been only marginally successful for this group. Also similar
to IART, pacemaker implantation may reduce atrial fibrillation episodes in patients with concomitant sinus node dysfunction. Successful elimination of atrial fibrillation has also
been reported after combined right and left atrial Maze
operations, which may be reasonable to consider if a patient
requires cardiac surgery to address hemodynamic issues.
Catheter ablation has not yet been extended in any systematic
way to atrial fibrillation in the ACHD patient population.
1.9.4. Ventricular Tachycardia
There are several scenarios in which high-grade ventricular
arrhythmias may develop in the ACHD patient. The most
familiar involves macroreentrant VT as a late complication in
postoperative patients who have undergone ventriculotomy
and/or patching of a VSD, such as tetralogy of Fallot repair.
In such cases, the reentry circuit is typically caused by narrow
conduction corridors around regions of scar in the RV
outflow tract (RVOT). The incidence of late VT or sudden
death for repaired tetralogy has been estimated between 0.5%
and 6.0% in various series (140,162,163). Some patients with
slow organized VT may be hemodynamically stable at
presentation, but VT tends to be rapid for the majority,
producing syncope or cardiac arrest as the presenting symptom. The clinical picture is often confounded by the fact that
symptomatic atrial tachycardias are also common in ACHD
patients (164), which makes it difficult at times to tell
whether an event was caused by VT, IART, or both.
Predicting which CHD patients will develop VT in advance of an episode remains a challenge. Studies seeking risk
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factors in the population with tetralogy of Fallot have
identified older age at time of reparative surgery, advanced
degrees of RV dilation, and prolonged QRS duration greater
than 180 milliseconds as independent variables (140,165–
167), although the predictive accuracy for each of these
factors is imperfect. Holter monitoring and exercise testing
have also been examined as screening tools with some degree
of correlation between spontaneous ectopy and future VT
events, but because ectopy on ambulatory monitoring is
nearly ubiquitous in this population, the positive predictive
value is diluted. Formal ventricular stimulation study can
discriminate between high- and low-risk CHD patients
(168,169) but remains too imperfect and too impractical to be
recommended as a general screening tool. Intracardiac electrophysiology testing is usually reserved for selected patients
with concerning symptoms or Holter findings when VT is
suspected but not yet proven. At present, there is no generally
accepted scheme for rhythm surveillance in asymptomatic
patients with tetralogy of Fallot. Some combination of the
above tests must be viewed in the context of the individual
patient’s history and general hemodynamic status to guide
testing and treatment decisions whenever symptoms are
minimal or absent. Symptoms of palpitations, dizziness, or
unexplained syncope would obviously heighten the index of
suspicion and should trigger a thorough and prompt diagnostic evaluation, which probably should include formal electrophysiological testing.
Although tetralogy of Fallot is typically cited as the
archetypal lesion when VT in the ACHD patient population is
discussed, serious ventricular arrhythmias may also develop
in a number of other malformations, even in the absence of
direct surgical scarring to ventricular muscle. Examples
include congenital AS, dextro- or levo-TGA when the right
ventricle supports the systemic circulation, severe Ebstein’s
anomaly, certain forms of single ventricle, and VSD with
PAH. The appearance of ventricular arrhythmias in these
cases commonly coincides with deterioration in overall hemodynamic status (165).
Therapy for VT in ACHD patients is complex and evolving. Similar to VT treatment in ischemic heart disease, sole
reliance on pharmacological management has now been
largely abandoned. Empirical beta blockade and class I or
class III agents might still be prescribed in rare cases when
the clinician remains ambivalent about a patient’s VT risk
after thorough testing, but no data support this approach once
sustained VT or cardiac arrest has occurred. Drug therapy has
now been replaced at most centers by more definitive
interventions, such as implantable cardioverter defibrillator
placement, catheter ablation, or arrhythmia surgery. Before
deciding among these options, hemodynamic catheterization
combined with comprehensive electrophysiology study
should be obtained. Reparable hemodynamic issues may be
identified that would favor a surgical strategy for therapy,
such as closure of a residual septal defect or relief of valve
regurgitation, combined with intraoperative VT mapping and
ablation (170). In addition, IART may be identified as either
a contributing or confounding factor for a patient’s symptoms
and can be addressed with either catheter or surgical ablation
at the same setting. Finally, if VT can be induced that is slow
e25
enough to support the circulation during mapping, catheter
ablation of the VT circuit may be considered on the basis of
the risks and benefits to the individual patient (171,172).
Although reports of ablation for VT in ACHD patients are
still limited to small series, it appears that it can be accomplished with a reasonable degree of acute success (173,174);
however, the risk of VT recurrence after ablation is now
being more clearly defined and may exceed 20% (174). It
seems wise to reserve ablation as isolated VT therapy for
those CHD patients with superior hemodynamics and single
circuits of slow tachycardia, and even then, to perform
follow-up stimulation studies to ensure that the same or
different circuits cannot be induced before dismissing the
need for an implantable cardioverter defibrillator. Perhaps a
more important role for catheter ablation may be as supplemental therapy to reduce the shock burden in patients with
frequent VT recurrences who already have an implantable
cardioverter defibrillator in place.
Most ACHD patients with documented or highly suspected
VT are now managed with an implantable cardioverter
defibrillator (175). Transvenous systems are possible in most
cases, with the notable exceptions of single-ventricle patients,
those with obstructed venous channels, and those with significant intracardiac shunts who would be at risk for systemic
embolic events from an intravascular lead. Acute defibrillation thresholds in CHD patients are comparable to those
encountered in acquired heart disease. What may differ
during follow-up is the need for lead revision. There is now
growing evidence that lead failure from insulation or conductor breaks is relatively high in this group (175), which
possibly reflects a more active lifestyle for young ACHD
patients than for an older population with ischemic disease.
1.10. Management of Bradycardias
1.10.1. Sinoatrial Node Dysfunction
Although some rare forms of heterotaxy syndrome can be
associated with congenital dysfunction or absence of the
sinoatrial node, pathological sinus bradycardia in ACHD
patients is more often an acquired problem related to cardiac
surgery. Direct trauma to the sinoatrial node or its arterial
supply occurs fairly frequently after the Mustard, Senning,
Glenn, and Fontan operations (139,144,176,177). The likelihood of a patient developing IART or atrial fibrillation
becomes significantly increased in this setting. Furthermore,
patients with suboptimal hemodynamics may become symptomatic owing to chronotropic incompetence and the loss of
AV synchrony. The updated guidelines for antibradycardia
pacemaker implantation developed by the ACC and AHA
(138) include information pertinent to CHD under the heading of “children and adolescents.” These same guidelines can
be applied reasonably well to ACHD patients. Implantation of
an atrial or dual-chamber pacing system with activity responsiveness is recommended as a Class I indication in any
symptomatic patient with sinoatrial node dysfunction. This
will include most of those with tachy-brady syndrome and
symptoms from recurrent atrial tachycardias, as well as any
patient who is shown to have pause-dependent VT. Pacemaker implantation is also recommended as a Class IIb
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indication for asymptomatic adult patients with resting heart
rates of less than 40 beats per minute or abrupt pauses in
excess of 3 seconds. The possibility of developing ventricular
dysfunction with apical ventricular pacing exists. Although
dual-chamber pacing systems may be implanted, manipulation of pacing programming to maintain atrial pacing with
intact AV conduction is desirable.
There are a number of unique technical considerations
during pacemaker implantation in ACHD patients. Transvenous lead positions, for example, will often have to be
modified in response to the cardiac lesion and vascular
redirection imposed by surgical patches or anastomotic stenosis, as occurs after the Mustard or Senning operations.
Transvenous leads may be impossible or ill advised in other
CHD lesions, including in some postoperative Fontan patients
or patients with intracardiac shunting, thereby necessitating
epicardial lead placement. With either the endocardial or
epicardial approach, it can be challenging to locate lead
anchor points with proper pacing and sensing function due to
fibrosis and patching, particularly for an atrial lead. Clear
knowledge of the specific anatomy and review of all surgical
records are essential before device placement is attempted in
these patients.
1.10.2. Atrioventricular Block
Surgical repair of CHD may result in direct trauma to the AV
conduction tissues. Although improved knowledge of the
anatomy of the AV node and His bundle in various CHD
lesions has lessened its occurrence (178), closure of some
VSDs, surgery for left-sided heart outflow obstruction, and
replacement or repair of an AV valve may still be complicated by AV block. Fortunately, in more than half of cases,
this injury is a transient phenomenon, and conduction recovers within 7 to 10 days of the operation (179). Permanent
pacemaker implantation is advised (138) as a Class I indication for any patient with postoperative advanced second- or
third-degree AV block that is not expected to resolve or
persists at least 7 to 10 days after cardiac surgery. A
pacemaker is also recommended by some as a Class IIb
indication when surgical AV block recovers but the patient is
left with permanent bifascicular block.
The AV conduction tissues may also be congenitally
abnormal in terms of their location and function in specific
forms of CHD, notably congenitally corrected TGA
(CCTGA), as well as AV septal defect (AVSD), particularly those with Down syndrome (180 –182). These patients may be more susceptible to surgical or catheterinduced AV block but may also develop AV block
spontaneously at any point in time ranging from fetal life
to adulthood. Patients with these particular anatomic
defects merit periodic assessment of AV conduction with
serial ECGs and Holter monitoring, even if AV conduction
was not directly affected by surgery.
1.11. Cyanotic Congenital Heart Disease
Right-to-left intracardiac or extracardiac shunts result in
hypoxemia, erythrocytosis, and cyanosis. Cyanotic ACHD
patients should be seen at least annually by an ACHD
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specialist. Survival is determined by the type of underlying
CHD and the medical complications of cyanosis.
1.11.1. Recommendations for Hematologic Problems
CLASS I
1. Indications for therapeutic phlebotomy are hemoglobin greater
than 20 g per dL and hematocrit greater than 65%, associated
with headache, increasing fatigue, or other symptoms of hyperviscosity in the absence of dehydration or anemia. (Level of
Evidence: C)
CLASS III
1. Repeated routine phlebotomies are not recommended because
of the risk of iron depletion, decreased oxygen-carrying capacity, and stroke. (Level of Evidence: C)
Cyanosis in patients with CHD has profound hematologic
consequences that may affect many organ systems and need
to be recognized and managed appropriately. The hematologic complications of chronic hypoxemia are erythrocytosis,
iron deficiency, and bleeding diathesis (183). The increase in
red blood cell mass that accompanies cyanosis is a compensatory response to improve oxygen transport. The white blood
cell count is usually normal, and the platelet count may be
normal or reduced.
The increased red blood cell mass may result in an increase
in blood viscosity. However, the most likely cause of complications in adults with cyanotic CHD is aggressive phlebotomy or blood loss (184). Most cyanotic patients have compensated erythrocytosis with stable hemoglobin that requires
no intervention. Therapeutic phlebotomy, therefore, is usually
unnecessary unless the hemoglobin is more than 20 g/dL and
the hematocrit is greater than 65% with associated symptoms
of hyperviscosity and no evidence of dehydration. At these
levels, patients may experience symptoms of headache and
poor concentration. These symptoms may be relieved by
removal of 1 unit of blood, always with an equal volume
replacement of dextrose or saline. The purpose of the phlebotomy is to relieve hyperviscosity symptoms and occasionally, before elective operation, to improve coagulation. Repetitive phlebotomies deplete iron stores and may result in
production of iron-deficient red blood cells. Iron deficiency,
even in the face of erythrocytosis, is undesirable because of
the reduced oxygen-carrying capacity and deformability of
red blood cells (microcytes) and increased risk of stroke. A
peripheral blood smear and serum ferritin or transferrin
saturation will confirm the diagnosis.
The treatment for iron deficiency in a patient with destabilized erythropoiesis is challenging. Oral administration of
iron frequently results in a rapid and dramatic increase in red
cell mass; therefore, caution should be exercised and hemoglobin monitored. Once the serum ferritin and/or transferrin
saturation is within the normal range, iron supplementation
may be discontinued. Occasionally, patients are intolerant of
oral iron and should be placed on pulses of intravenous iron
supplementation instead.
1.11.1.1. Hemostasis
Hemostatic abnormalities have been documented in up to
20% of cyanotic patients. Platelet dysfunction and clotting
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factor deficiencies combine to produce a bleeding tendency in
these patients. Epistaxis, gingival bleeding, menorrhagia, and
pulmonary hemorrhage are the most common causes of
bleeding. The use of anticoagulants and antiplatelet agents,
therefore, is controversial and confined to well-defined indications with careful monitoring of the degree of anticoagulation. For a given concentration of citrate solution, the
volume must be adjusted downward to correct for the lower
plasma volume in those with high hematocrits.
1.11.1.2. Renal Function
In chronic cyanosis, the renal glomeruli are abnormal, frequently hypercellular, and congested and eventually become
sclerotic (185). This results in a reduction of the glomerular
filtration rate, increased creatinine levels, and proteinuria.
This may cause problems with radiopaque contrast material
and dehydration, leading to uremia, oliguria, and even anuria.
Thus, patients should be hydrated before procedures that
involve contrast media.
Abnormal urate clearance is common, and this in conjunction with an increased turnover of red blood cells leads to
hyperuricemia and occasionally gout. Hyperuricemia without
gout is usually well tolerated and rarely requires intervention
(186). Symptomatic gout should be treated.
Medications that affect renal function, such as ACE inhibitors, diuretics, nonsteroidal antiinflammatory drugs, and
select antibiotics, should be given with concern and cautious
monitoring. As in all persons proceeding to catheterization,
cyanotic patients should have an appropriate assessment of
glomerular filtration rate (which may require more than
measurement of serum creatinine), and the hydration state
should be maximized within the constraints of appropriateness for a safe procedure. A low threshold for the use of
renally protective strategies (N-acetylcysteine or bicarbonate
administration) should be considered when indicated.
1.11.1.3. Gallstones
The increased breakdown of red blood cells in chronic
cyanosis results in an increased risk of calcium bilirubinate
gallstones. Surgical intervention is not recommended until
patients become symptomatic (refer to Section 1.7, Recommendations for Noncardiac Surgery).
1.11.1.4. Orthopedic and Rheumatologic Complications
Hypertrophic osteoarthropathy with thickened, irregular periosteum occurs in the setting of cyanotic CHD. This may be
accompanied by aching and tenderness, especially in the long
bones of the legs.
Scoliosis occurs in a high percentage of patients with
cyanotic CHD and is occasionally severe enough to compromise pulmonary function and require surgical intervention.
Preoperative evaluation by an ACHD cardiologist and cardiac
anesthesiologist is recommended before the operation for
scoliosis is undertaken because of the recognized increased
risk of surgery in cyanotic patients, especially those with
PAH, for which this procedure may be contraindicated.
1.11.1.5. Neurological Complications
Neurological complications include an increased risk for
paradoxical cerebral emboli. Brain abscess in cyanotic pa-
e27
tients and thromboembolic events in patients with atrial
tachycardia or atrial stasis associated with transvenous pacing
leads can result in new neurological symptoms. These complications should be suspected in a cyanotic patient with
headache, fever, and new neurological symptoms. Substantial
cognitive and psychosocial issues are prevalent in this population, as discussed in Section 1.5.2, Recommendations for
Psychosocial Issues.
1.11.1.6. Pulmonary Vascular Disease
Pulmonary vascular disease commonly accompanies cyanosis
in patients with ACHD. The management of and concerns
about pulmonary vascular disease and ACHD are discussed
in more detail in a later section (Section 9, Pulmonary
Hypertension/Eisenmenger Physiology).
1.12. Recommendations for General Health
Issues for Cyanotic Patients
CLASS I
1. Cyanotic patients should drink nonalcoholic and noncaffeinated fluids frequently on long-distance flights to avoid dehydration. (Level of Evidence: C)
CLASS IIb
1. Supplemental oxygenation may be considered for cyanotic
patients during long-distance flights. (Level of Evidence: C)
Cyanotic patients should use only pressurized commercial
airplanes. Oxygen therapy, although often unnecessary, may
be suggested for prolonged travel. Similarly, residence at
high altitude is detrimental for patients with cyanosis. Dehydration should be avoided by frequent fluid intake on long
flights and during sports activities.
Competitive sports should be avoided in cyanotic patients
(187). Cyanosis is a recognized handicap to fetal growth and
development, and pregnancy outcome is impacted, with an
increased risk of congestive heart failure, preterm delivery,
intrauterine growth retardation, and miscarriage. Increased
maternal and fetal mortality are also noted and correlate with
the degree of cyanosis, ventricular dysfunction, and pulmonary pressures (117).
1.12.1. Hospitalization and Operation
Cyanotic patients are at high risk during any hospitalization
or operation. When hospitalized for medical or surgical
problems, these patients should be seen and followed up by
an ACHD specialist. Management strategies that should be
applied include those likely to reduce the risk of paradoxical
emboli related to air in the intravenous lines. Medication
adjustment may be needed, with cyanosis taken into account.
Early ambulation may prevent venous stasis and
thrombophlebitis.
1.12.2. Cardiac Reoperation and Preoperative
Evaluation
Although some ACHD patients present without prior intervention, the majority will have undergone 1 or more prior
repairs. Review of prior operative notes can provide important insight when a cardiac repair is planned. Repeat sternotomy may be associated with cardiac injury. The heart and
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great arteries may be closely adherent to the sternum because
of the loss of pericardial integrity or presence of conduit
material in the anterior mediastinum. In addition, right-sided
heart structures may be enlarged or hypertensive, which also
increases the potential for injury during sternotomy. Morphological abnormalities of the aorta, pulmonary artery, or
ventricle–to–pulmonary artery conduit may also be at increased risk of injury. Peripheral vascular abnormalities may
be present secondary to previous cardiac catheterization or
operative procedures. For example, the radial pulse may be
absent in patients with a prior classic Blalock-Taussig shunt.
Femoral artery or vein occlusion may have occurred secondary to prior catheterization procedures or indwelling monitoring lines. Knowledge of the status of femoral or auxiliary
vessels before reoperation may be particularly important if
cannulation for establishment of cardiopulmonary bypass via
these vessels is being planned.
To minimize the potential problems that may arise at the
time of rerepair, additional preoperative studies may be
necessary. The choice of the various supplemental imaging
studies should be individualized on the basis of the surgeon’s
preference and institutional availability. Imaging studies that
are frequently used include ultrasound, cine angiography, or
MRI to document patency of cardiac anatomy (or occlusion)
and status of femoral or axillary vessels. Coronary angiography or CT angiography is used to identify coronary anomalies
or obstructive lesions. CT imaging of the chest may be
helpful in identifying the relationship and proximity of the
right ventricle, right atrium, aorta, pulmonary artery, or
extracardiac conduit to the sternum or anterior chest wall. The
importance of reviewing prior surgical notes when a repeat
operation is planned cannot be overemphasized.
Men aged 35 years or older, premenopausal women 35
years or older with risk factors for atherosclerosis, and
postmenopausal women should be evaluated by cardiac
catheterization and coronary angiography to rule out associated coronary artery disease before they undergo reoperative
cardiac surgery (112).
1.13. Heart Failure in Adult Congenital
Heart Disease
The New York Heart Association classification may be
inadequate in ACHD patients, particularly if they are cyanotic. Respiratory physiology in cyanotic heart disease is well
understood, and it is known that dyspnea may occur within
the first 30 seconds of commencing exercise because of the
arrival of hypoxemic and acidotic blood at the central
receptors; thus, such dyspnea is not due to “pulmonary
congestion,” as is the case in heart failure (188 –190).
Therefore, cyanotic patients with ACHD may have dyspnea
on exertion without having heart failure. It is preferable to use
a functional ability or activity index (191). The patient with
CHD who survives to adulthood will often have 1 or more
substrates for developing the clinical syndrome of heart
failure, which may either be right- or left-sided or involve
both sides of the circulation. Typical ACHD substrates for
late heart failure in ACHD patients are as follows:
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●
●
●
●
●
●
●
●
Severe AS and/or regurgitation BAV and variants, subvalvular or supravalvular pathology, superimposed coarctation
Severe congenital mitral stenosis/regurgitation
Unoperated ASD or partial AVSD
CCTGA
D-transposition after Mustard or Senning operation, in which
the morphological right ventricle is the systemic ventricle
Tetralogy of Fallot with early-era surgery, long-standing
shunt, or severe pulmonary regurgitation
Single-ventricle physiology
Fontan surgery.
Many ACHD patients have experienced a combination of
prolonged volume and pressure overload. Factors that predispose to the development of late heart failure include abnormal
anatomy, surgical sequelae, and progression of underlying
pathology. Myocardial damage during cardiac surgery was
more common in patients who had operations during the
earlier surgical era, but it may still occur in the present day
with long cardiopulmonary bypass time, the need for large
patches, or incisional scars (192). The reason for late heart
failure in certain subsets of ACHD patients is of intense
interest but not completely resolved. For example, anomalies
in which the SV is a morphological right ventricle or there is
a single ventricle have a higher incidence of myocardial
dysfunction over time and with time may develop heart
failure pathology (193). The presence of significant tricuspid
(especially systemic AV valve) regurgitation is strongly
associated with RV dysfunction and may be progressive
(194). Inappropriate ventricular hypertrophy or myocardial
oxygen supply-demand imbalance that results in myocardial
ischemia has also been proposed to be a causative factor
(195,196). In some forms of cardiac failure, there is evidence
of biventricular interaction such that dysfunction of either
ventricle negatively influences the other (ie, ventricular-ventricular dependence) (197,198). A straightforward example of
adverse interventricular interaction is seen in right-sided heart
volume overload in ASD, which results in changes in left
ventricular (LV) shape, end-diastolic volume, and ejection
fraction, which will normalize after closure of the defect
(197). A recent special report on ventricular form and
function, although targeted at the left ventricle, notes a shift
from primary emphasis on contractile state and load to newer
concepts of interaction and dynamic rearrangement of the
myocardial layers, factors that may be altered considerably in
CHD (199,200). To these substrates, other possible pathogenetic factors for heart failure can be added, such as the
following:
●
●
●
●
●
●
●
Prolonged cyanosis
Prolonged pressure overload (eg, AS and subaortic stenosis
[SubAS])
Prolonged volume overload (eg, aortopulmonary shunt,
AV semilunar valve regurgitation, or residual shunt)
Poor myocardial intraoperative preservation
Large ventricular septal patch
Large ventricular incisions/scar
Residual LVOT or RVOT obstruction (eg, PS/pulmonary
regurgitation) or shunts (eg, VSD patch leak)
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●
●
Arrhythmias
Obesity.
In addition, the following superimposed diseases or conditions unrelated to ACHD patients that become common in
adulthood can contribute to or “tip the balance” toward
development of heart failure:
●
●
●
●
●
●
●
●
●
●
●
●
Acquired valvular heart disease
Coronary artery disease
Systemic hypertension
Diabetes mellitus
Pregnancy
Endocarditis
Chronic respiratory disease
Cardiotoxic chemotherapy/mediastinal irradiation
Illicit drug use
Acquired renal or liver disease
Obstructive sleep apnea
Hyperthyroidism or hypothyroidism.
One concept that deserves more attention in the field of
heart failure and ACHD is that of “ventriculoarterial coupling.” It is well known that increased systemic arterial
pressure or isolated systolic hypertension occurs in many
individuals as they age and that this has detrimental effects.
Changes in aortic diameter, stiffness, and wave reflection
increase with age, which leads to an increase in ventricular
afterload and may adversely affect late systolic ejection
and/or early diastolic relaxation. Such aging changes may be
detrimental to a systemic right or single ventricle that is ill
prepared for any additional afterload. In addition, a combination of ventricular hypertrophy and arterial stiffening may
lead to diastolic heart failure in the presence of preserved
ventricular ejection fraction.
Signs of heart failure in ACHD patients may vary from the
usual findings in patients with acquired heart disease and
heart failure. Cardiorespiratory and ventilatory responses to
exercise after a Fontan procedure, for example, are subnormal, including lower than expected V̇o2 max, subnormal
cardiac output and heart rate responses to exercise, and an
abnormal reduction of resting arterial O2 saturation at peak
exercise. After a Fontan or Glenn procedure, interpretation of
the jugular venous pressure loses its usual meaning.
The ACC/AHA 2005 Guideline Update for the Diagnosis
and Management of Chronic Heart Failure in the adult
appropriately notes that critical assessment of ventricular
function is needed in the patient with heart failure (201). It is
desirable that assessments of function include quantitative
measurements (eg, cardiopulmonary exercise testing with
determination of oxygen consumption or cardiac function assessed by echocardiography with specific measures of systolic
and diastolic function). Cardiac MRI to assess ventricular
anatomy and function, dimensions, myocardial perfusion, and
ischemia in adults with unoperated or operated CHD (eg,
after atrial switch procedures) may be helpful (202–204).
MRI studies of systemic right ventricles and single ventricles
may show abnormalities of myocardial twist, torsion, radial
motion, shortening, and strain relations (205,206). The frequent presence of abnormal ventricular anatomy warrants the
e29
addition of a Doppler echocardiography– derived index of
myocardial performance index (or Tei index) or measurement
of blood levels of brain natriuretic peptide (BNP)
(192–194,207,208).
BNP production is affected by ventricular wall stress (eg,
pressure overload such as AS, in which BNP appears to be
influenced by both systolic and diastolic load) (209). BNP has
been shown to be elevated not only in patients with heart failure
and LV systolic dysfunction but also in patients with diastolic
dysfunction and in RV dysfunction (198). However, BNP can be
elevated in cyanotic heart disease without evidence of heart
failure or myocardial dysfunction (210). BNP levels overall have
been shown to be predictors of cardiac events (211) and have
been shown to aid in emergency department diagnosis of heart
failure when the cause of a patient’s dyspnea is unclear (212),
but their role in outpatient diagnosis and clinical follow-up of
heart failure and ACHD remains under investigation. Serial
measurement of BNP in patients at risk for the development of
heart failure, such as patients with single-ventricle anatomy, may
prove useful in guiding intervention.
Many current therapeutic strategies for the treatment of
heart failure are directed at blocking activation of the neurohormonal system. The role of such medical treatments (eg,
ACE inhibitors, angiotensin receptor blockers, and beta
blockers) in the prevention or treatment of heart failure has
only been studied in small numbers of ACHD patients. One
such report on the use of ACE inhibitors in adults after the
Mustard procedure showed no significant change in MRI
parameters of RV volumes and ejection fractions or of
measured exercise capacity (V̇o2 max, exercise duration, and
blood pressure response) for the group as a whole, although
there was improvement in some patients; the authors recommended a multiinstitutional prospective trial (53).
Established medical therapy for those with acquired heart
disease and heart failure now incorporates medications directed at the renin-angiotensin-aldosterone system and sympathetic nervous systems. Although there exist multiple large,
randomized, controlled clinical trials of drugs and other
therapeutic interventions for heart failure in acquired heart
disease, none have included the ACHD population (213).
Thus, one should extrapolate cautiously from heart failure
trials in acquired heart disease (214 –218).
Aldosterone blockade with spironolactone has been shown in
a small number of Fontan patients to improve the protein-losing
enteropathy (PLE) syndrome (219). Few clinical trials have
addressed the effect of angiotensin receptor blockers on outcomes in any adult patients with CHD. The role of the central
and peripheral autonomic nervous system in ACHD patients has
received some attention but needs further investigation (220 –
226). For example, in patients with previously operated tetralogy
of Fallot, RVOT reconstruction may have affected cardiac
autonomic nervous activity, which may also affect exercise
hemodynamics, in part via heart rate recovery, altered respiratory physiology, and a decreased systolic blood pressure response with reduced cardiac output reserve. Critical investigation of various medications and other interventions for the
possible treatment or prevention of heart failure in patients after
tetralogy of Fallot repair, in patients with diminished systemic
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right or single-ventricle function, and in patients after a Fontan
procedure is needed to optimize outcomes for these patients.
The role of pacemaker therapy in the treatment of cardiac
failure is evolving rapidly (71,227). The need for pacing often
coincides with worsening hemodynamic status, and it is not
always possible to separate cause and effect. Regardless, it is
well known that abnormal activation sequences (eg, from RV
pacing) may cause a reduction in ventricular function
(228,229).
Intraventricular or interventricular dyssynchrony may exacerbate chronic heart failure. Cardiac resynchronization
therapy is an accepted means of improving ventricular function in conditions with normal 2-ventricle morphology and is
now being proposed for treatment of heart failure in patients
with a systemic RV (230). At present, there is no evidence to
support its use in any patient with single-ventricle morphology. Current criteria for cardiac resynchronization therapy
implantation in patients with normal (2-ventricle) morphology and heart failure include persistent heart failure symptoms despite appropriate medical therapy, QRS duration
greater than or equal to 120 milliseconds with left bundlebranch block morphology, and the presence of sinus rhythm.
1.14. Recommendations for Heart and
Heart/Lung Transplantation
CLASS I
1. Patients with CHD and heart failure who may require heart
transplantation should be evaluated and managed in tertiary
care centers with medical and surgical personnel with experience and expertise in the management of both CHD and heart
transplantation. (Level of Evidence: C)
2. Patients with CHD and heart or respiratory failure who may
require lung or heart/lung transplantation should be evaluated
and managed in tertiary care centers with medical and surgical
personnel with experience and expertise in the management of
CHD and lung or heart/lung transplantation. (Level of Evidence: C)
In ACHD patients, postoperative ventricular failure may
occur early after operation but more commonly develops late
after operation, often in adulthood. Late systemic ventricular
failure can be associated with many congenital diagnoses.
The pretransplantation evaluation involves a multidisciplinary approach that addresses assessment of cardiopulmonary, renal, neurological, hepatic, infectious disease, socioeconomic, and psychological issues. In addition to history
and physical examination, diagnostic studies include ECG,
echocardiography, chest x-ray, and Holter monitoring. Cardiac catheterization is required to assess pulmonary vascular
resistance (PVR) and transpulmonary gradient (231). In
addition to cardiac catheterization, MRI or CT angiography is
often performed to delineate the anatomy in patients with
complex CHD (eg, patients with malposition of the great
arteries and/or substernal position of an extracardiac conduit, abnormalities of systemic venous return, and situs
abnormalities).
Many patients with long-standing heart failure may have
elevated PVR. Consequently, donor right-sided heart failure
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may result when the heart is abruptly placed proximal to such
a high-resistance pulmonary vascular bed. Pharmacological
modulation of pulmonary hemodynamics with pulmonary
vasodilators during cardiac catheterization helps predict outcome after heart transplantation (232,233). In most centers, a
fixed PVR index of 6 units or more or a transpulmonary
gradient greater than 15 mm Hg that does not respond to
vasodilator therapy (oxygen, nitric oxide, milrinone, or dobutamine) is a contraindication to cardiac transplantation
alone, although transplantation from a rare donor with PAH
in a Domino procedure with heart/lung transplantation in 1
recipient followed by transplantation of the recipient’s heart
into another recipient may still be successful.
Contraindications to cardiac transplantation include the
following:
●
●
●
●
●
●
●
Active infection
Positive serology for human immunodeficiency virus or
hepatitis C infections
Severe metabolic disease
Multiple other severe congenital anomalies
Multisystem organ failure
Active malignancy
Cognitive or behavioral disability that interferes with
compliance.
Heart/lung transplantation is usually reserved for patients
with uncorrectable or previously repaired or palliated CHD
associated with significant pulmonary vascular obstructive
disease, such as single-ventricle physiology with pulmonary
vascular disease or LV dysfunction with associated pulmonary vascular disease. When a simple cardiac defect is
present, such as ASD, VSD, or PDA, the cardiac defect can
often be repaired at lung transplantation (234). In the presence of more complex intracardiac abnormalities, combined
heart/lung transplantation is usually most appropriate.
Previous thoracotomies are not an absolute contraindication to transplantation, but in the presence of chronic cyanosis, vascular collaterals may lead to fatal hemorrhagic complications. The absence of detectable recurrence of
malignancy for 5 years may permit successful transplantation.
Obesity is a relative contraindication to transplantation.
Survival rates after heart transplantation have improved
over the years, and the current predicted posttransplantation
half-life (the time at which 50% of those with transplanted
organs remain alive, or median survival) for the entire cohort
of pediatric and adult heart recipients is 10 years, with a
half-life of 13 years for those who survive the first year;
however, having ACHD as an indication for transplant
increases that risk during the first year by 2-fold (235).
Advances in selection, technique, and management of
patients undergoing lung or heart/lung transplant have
resulted in significant improvement in survival. Overall,
survival after pediatric lung transplantation as reported by
the International Society of Heart and Lung Transplant
registry is approximately 75% at 1 year and 60% at 2 years
(236). The most common cause of mortality in the first
month after lung transplantation is acute graft failure; from
1 month to 1 year after transplantation, infection is the
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leading cause of death. From 1 to 3 years after lung
transplantation, chronic rejection or bronchiolitis obliterans is the leading cause of death. Beyond this time frame,
main causes of death include chronic rejection and infection. The outcome for heart/lung transplantation is similar
to that for lung transplantation.
Actuarial survival at 10 years after heart/lung transplantation is 20%. Results of lung and heart/lung transplantation for
PAH and ACHD are comparable to those reported for
children, with an increased risk of early mortality related to
perioperative complications and complexity compared with
transplantation for obstructive pulmonary disease or cystic
fibrosis. Outcomes for lung transplantation and cardiac repair
are comparable to those for heart/lung transplantation in the
treatment of PAH and CHD (237).
Table 9.
Disease
e31
Rhythm Disturbances in Adults With Congenital Heart
Rhythm Disturbance
Associated Lesions
Tachycardias
Wolff-Parkinson-White
syndrome
Ebstein’s anomaly
Congenitally corrected
transposition
Intra-atrial reentrant tachycardia
(atrial flutter)
Postoperative Mustard
Postoperative Senning
Postoperative Fontan
Tetralogy of Fallot
Other
Atrial fibrillation
Mitral valve disease
Aortic stenosis
2. Atrial Septal Defect
Tetralogy of Fallot
Palliated single ventricle
2.1. Definition
One of the most common adult congenital heart defects, an ASD
is a persistent communication between the atria. There are
several different types of ASD: the secundum ASD in the region
of the fossa ovalis (75% of cases), the primum ASD (15% to
20%) positioned inferiorly near the crux of the heart, the sinus
venosus ASD (5% to 10%) located superiorly near the superior
vena caval entry or inferiorly near the inferior vena caval entry,
and the uncommon coronary sinus septal defect (less than 1%),
which causes shunting through the ostium of the coronary sinus
(238). The patent foramen ovale (PFO) is a flaplike communication in which the septum primum covering the fossa ovalis
overlaps the superior limbic band of the septum secundum. In
some patients, the septum primum or secundum is aneurysmal
and may have multiple small fenestrations.
Ventricular tachycardia
Tetralogy of Fallot
Aortic stenosis
Other
Bradycardias
Sinus node dysfunction
Postoperative Mustard
Postoperative Senning
Postoperative Fontan
Sinus venosus ASD
Heterotaxy syndrome
Spontaneous AV block
AV septal defects
Congenitally corrected
transposition
Surgically induced AV block
VSD closure
Subaortic stenosis relief
2.1.1. Associated Lesions
AV valve replacement
ASD can be associated with additional malformations in
nearly 30% of cases (Table 9) (239). As a form of AVSD, the
primum ASD is nearly always accompanied by a cleft in the
anterior mitral valve leaflet. Discrete SubAS may develop
postoperatively. Sinus venosus defects frequently have partial
anomalous venous drainage of the right pulmonary veins.
This association is present in a small number of patients with
secundum ASDs as well. Mitral valve prolapse is frequently
seen in patients with ASD. Valvular pulmonic stenosis is
frequently described in association with ASD, but in some
cases, there is a mild RV outflow gradient that is caused by
increased flow but not a structural valve abnormality
(240,241).
Coronary sinus septal defect, a defect in the roof of the
coronary sinus and not technically an ASD, may be accompanied by partial or total anomalous pulmonary venous
connection and/or a persistent left superior vena cava draining to the coronary sinus.
2.2. Clinical Course
2.2.1. Unrepaired Atrial Septal Defect
The consequence of left-to-right shunt across an ASD is RV
volume overload and pulmonary overcirculation. Large atrial
AV indicates atrioventricular; ASD, atrial septal defect; and VSD, ventricular
septal defect.
shunts lead to symptoms from excess pulmonary blood flow
and right-sided heart failure, including frequent pulmonary
infections, fatigue, exercise intolerance, and palpitations.
Atrial arrhythmias—atrial flutter, atrial fibrillation, and sick
sinus syndrome—are a common result of long-standing
right-sided heart volume and pressure overload. Flow-related
PAH accompanies large left-to-right shunts, and pulmonary
vascular obstructive disease may develop in adult years but
occurs much later with ASD than with high-pressure left-toright shunts such as VSD or PDA. Paradoxical embolism
from peripheral venous or pelvic vein thromboses, atrial
arrhythmias, unfiltered intravenous infusions, or indwelling
venous catheters is a risk for all defects regardless of size
(242–244).
The initial presentation in adulthood most commonly
includes symptoms of dyspnea and palpitations (245,246).
Other modes of presentation in the previously undiagnosed
adult with an ASD include cardiomegaly on routine chest
x-ray, a more audible murmur during pregnancy, new onset
of atrial flutter/fibrillation, or a paradoxical embolic event.
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Patients with small defects (less than 10 mm) may remain
asymptomatic well into the fourth and fifth decade of life
(236,246); however, symptoms may develop with increasing age even with small defects owing to an increase in
shunting caused by a decrease in LV compliance secondary
to coronary artery disease, acquired valvular disease, or
hypertension.
2.3. Recommendations for Evaluation of the
Unoperated Patient
CLASS I
1. ASD should be diagnosed by imaging techniques with demonstration of shunting across the defect and evidence of RV
volume overload and any associated anomalies. (Level of
Evidence: C)
2. Patients with unexplained RV volume overload should be
referred to an ACHD center for further diagnostic studies to rule
out obscure ASD, partial anomalous venous connection, or
coronary sinoseptal defect. (Level of Evidence: C)
CLASS IIa
1. Maximal exercise testing can be useful to document exercise
capacity in patients with symptoms that are discrepant with
clinical findings or to document changes in oxygen saturation
in patients with mild or moderate PAH. (Level of Evidence: C)
2. Cardiac catheterization can be useful to rule out concomitant
coronary artery disease in patients at risk because of age or
other factors. (Level of Evidence: B)
CLASS III
1. In younger patients with uncomplicated ASD for whom imaging
results are adequate, diagnostic cardiac catheterization is not
indicated. (Level of Evidence: B)
2. Maximal exercise testing is not recommended in ASD with
severe PAH. (Level of Evidence: B)
The diagnostic workup for a patient with a suspected ASD
is directed at defining the presence, size, and location of the
ASD; the functional effect of the shunt on the right and left
ventricles and the pulmonary circulation; and any associated
lesions.
2.3.1. Clinical Examination
Clinical findings include a precordial lift, systolic pulmonary
flow murmur, and fixed splitting of the second heart sound
(although fixed splitting is not invariable). With large shunts,
a diastolic flow rumble across the tricuspid valve is present.
2.3.2. Electrocardiogram
The ECG often shows right-axis deviation, right atrial enlargement, incomplete right bundle-branch block (secundum
ASD), superior left-axis deviation (primum ASD), or an
abnormal P-wave axis (superiorly located sinus venosus
ASD). Complete heart block may be present in association
with familial ASD (247). The superior left axis with RV
conduction delay seen in primum ASD is due to the anatomic
position of the conduction bundles and should not be confused with bifascicular block.
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2.3.3. Chest X-Ray
The chest x-ray may show RV and right atrial enlargement, a
prominent pulmonary artery segment, and increased pulmonary vascularity.
2.3.4. Echocardiography
A TTE is the primary diagnostic imaging modality for ASD.
The study should include 2-dimensional imaging of the atrial
septum from the parasternal, apical, and subcostal views with
color Doppler demonstration of shunting. Subcostal views
with deep inspiration and high right parasternal views can be
particularly helpful for imaging ASD in adults. The entire
atrial septum from the orifice of the superior vena cava to the
orifice of the inferior vena cava should be visualized to detect
sinus venosus defects or the extension of large secundum
defects in these regions. A TEE may be necessary to identify
the connection of all pulmonary veins in patients with ASD.
In adults with poor-quality transthoracic images, TEE may be
necessary to adequately image the atrial septum (248 –251),
because it provides exact localization and sizing of the ASD,
as well as measurement of septal rims, each of which is
important for decision making.
A large coronary sinus orifice with evidence of atrial
shunting may indicate a defect in the roof of the coronary
sinus (eg, sinoseptal defects). Thus, the entire coronary sinus
roof should be imaged when this is suspected. When a
coronary sinoseptal defect is associated with lesions that
cause right-to-left shunting, the orifice of the coronary sinus
may not be enlarged and the defect not recognized until after
definitive surgery, at which time a left-to-right shunt may
occur. With PAH, the low velocity of the shunt flow across
the coronary sinoseptal defect may be difficult to distinguish
from other low-velocity flow within the atria.
Right atrial and RV enlargement with diastolic flattening
and paradoxical motion of the interventricular septum are
evidence of RV volume overload and a significant left-toright shunt. The RV systolic pressure should be estimated
from the peak velocity of the tricuspid regurgitant jet if
present. Two-dimensional imaging should assess associated
lesions such as mitral valve prolapse, cleft mitral valve,
anomalous pulmonary veins, and PS, and their functional
significance should be determined by color and spectral
Doppler.
Contrast echocardiography with intravenous agitated saline
injection is used to confirm the presence of a right-to-left
atrial shunt if imaging and color Doppler are not conclusive
(252). Additionally, the presence of negative contrast in the
right atrium may be helpful in identifying a left-to-right
shunt. If a left-to-right shunt or RV volume overload is
recognized but unexplained, the patient should be referred to
an ACHD center for further imaging studies.
2.3.5. Magnetic Resonance Imaging
MRI provides an additional noninvasive imaging modality if
findings by echocardiography are uncertain. Direct visualization of the defect and pulmonary veins is possible, RV
volume and function can be quantified, and estimates of shunt
size can also be obtained (253–255). Contrast-enhanced
ultrafast cine CT can also provide diagnostic information,
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although the radiation exposure limits its utility in most cases
(256).
Diagnostic cardiac catheterization is not required for uncomplicated ASDs in younger patients with adequate noninvasive imaging (257,258). It is generally reserved for investigation of coronary artery disease in those patients at risk by
virtue of age or family history and for whom surgical
intervention is planned and to assess PVR and reactivity in
patients with significant PAH. Catheterization may also be
required to evaluate ASD size, pulmonary venous return, and
associated valvular disease if noninvasive methods have been
unable to provide this information. In most instances, catheterization is now performed in conjunction with device
closure of the defect.
2.3.6. Exercise Testing
Exercise testing can be useful to document exercise capacity
in patients with symptoms that are discrepant with clinical
findings or to document changes in oxygen saturation in
patients with PAH. Maximal exercise testing is not recommended in ASD with severe PAH, however.
2.4. Diagnostic Problems and Pitfalls
The gradual onset of symptoms and the subtlety of the
physical findings with ASDs often lead to late diagnosis,
which puts the patient at greater risk for developing PAH,
arrhythmia, and paradoxical embolism. False-positive diagnosis of ASD can result from either apparent septal dropout
on 2-dimensional echocardiography images or misinterpretation by color Doppler of vena caval inflow as shunt flow. The
use of contrast echocardiography or TEE will prevent falsepositive interpretations. Patients with partial anomalous pulmonary venous drainage without an ASD will have RV
volume overload and may be erroneously presumed to have
an ASD.
False-negative diagnoses are relatively common in adults
with poor-quality transthoracic images, especially patients
with sinus venosus ASD. Because of its superior location, the
superior sinus venosus defect is most often missed by TTE
(248). Patients with an unexplained RV volume overload by
TTE should be studied by TEE or another imaging modality
to fully evaluate the atrial septum and pulmonary veins and to
rule out defects in the roof of the coronary sinus.
2.5. Management Strategies
2.5.1. Recommendations for Medical Therapy
CLASS I
1. Cardioversion after appropriate anticoagulation is recommended to attempt restoration of the sinus rhythm if atrial
fibrillation occurs. (Level of Evidence: A)
2. Rate control and anticoagulation are recommended if sinus
rhythm cannot be maintained by medical or interventional
means. (Level of Evidence: A)
Patients with small shunts and normal RV size are generally asymptomatic and require no medical therapy. Routine
follow-up of the patient with a small ASD without evidence
of RV enlargement or PAH should include assessment of
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symptoms, especially arrhythmias, and possible paradoxical
embolic events. A repeat echocardiogram should be obtained
every 2 to 3 years to assess RV size and function and
pulmonary pressure. Reductions in LV compliance related to
hypertension, coronary artery disease, or acquired valvular
disease increase the degree of left-to-right shunt across an
existing ASD.
Atrial arrhythmias should be treated to restore and maintain sinus rhythm if possible (259). If atrial fibrillation occurs,
both antiarrhythmic therapy and anticoagulation should be
recommended.
ASDs that are large enough to cause PAH should be closed
provided there is evidence of pulmonary vascular reactivity
and a net left-to-right shunt. Medical therapy for PAH is
indicated only for those patients who are considered to have
irreversible PAH and therefore are not eligible for ASD
closure (refer to Section 9, Pulmonary Hypertension/Eisenmenger Physiology, for more extensive discussion of the
treatment of PAH).
and Surgical Therapy
CLASS I
1. Closure of an ASD either percutaneously or surgically is indicated for right atrial and RV enlargement with or without
symptoms. (Level of Evidence: B)
2. A sinus venosus, coronary sinus, or primum ASD should be
repaired surgically rather than by percutaneous closure. (Level
of Evidence: B)
3. Surgeons with training and expertise in CHD should perform
operations for various ASD closures. (Level of Evidence: C)
CLASS IIa
1. Surgical closure of secundum ASD is reasonable when concomitant surgical repair/replacement of a tricuspid valve is considered or when the anatomy of the defect precludes the use of
a percutaneous device. (Level of Evidence: C)
2. Closure of an ASD, either percutaneously or surgically, is
reasonable in the presence of:
a. Paradoxical embolism. (Level of Evidence: C)
b. Documented orthodeoxia-platypnea. (Level of Evidence: B)
CLASS IIb
1. Closure of an ASD, either percutaneously or surgically, may be
considered in the presence of net left-to-right shunting, pulmonary artery pressure less than two thirds systemic levels, PVR
less than two thirds systemic vascular resistance, or when
responsive to either pulmonary vasodilator therapy or test
occlusion of the defect (patients should be treated in conjunction with providers who have expertise in the management of
pulmonary hypertensive syndromes). (Level of Evidence: C)
2. Concomitant Maze procedure may be considered for intermittent or chronic atrial tachyarrhythmias in adults with ASDs.
CLASS III
1. Patients with severe irreversible PAH and no evidence of a
left-to-right shunt should not undergo ASD closure. (Level of
Evidence: B)
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Surgical closure has been the “gold standard” form of
treatment, with excellent late outcome. A surgeon not trained
in CHD should be cautious when planning to close a
secundum ASD, because the intraoperative discovery of an
unexpected primum ASD or partial anomalous pulmonary
venous drainage can present challenges.
Primary operation includes pericardial patch closure or
direct suture closure. Tricuspid valve repair should be performed for significant tricuspid regurgitation (TR). Anomalous pulmonary venous drainage should be repaired. The
Warden procedure (translocation of the superior vena cava to
the right atrial appendage) may be applied to the sinus
venosus ASD when the anomalous pulmonary venous drainage enters the mid or upper superior vena cava. A concomitant Maze procedure may be performed for intermittent/
chronic atrial fibrillation/flutter. The surgical approach can be
by right thoracotomy or sternotomy, and more limited incisions are feasible with either approach.
Early mortality is approximately 1% in the absence of PAH
or other major comorbidities. Long-term follow-up is excellent, and preoperative symptoms decrease or abate. The
incidence of atrial fibrillation/flutter is reduced when concomitant antiarrhythmic procedures (eg, Maze) are performed; however, atrial arrhythmias may occur de novo after
repair.
The need for reoperation of residual/recurrent ASD is
uncommon. Superior vena cava stenosis or pulmonary vein
stenosis may occur after closure of sinus venosus ASD.
2.5.3. Indications for Closure of Atrial Septal Defect
Small ASDs with a diameter of less than 5 mm and no
evidence of RV volume overload do not impact the natural
history of the individual and thus may not require closure
unless associated with paradoxical embolism. Larger defects with evidence of RV volume overload on echocardiography usually only cause symptoms in the third decade
of life, and closure is usually indicated to prevent longterm complications such as atrial arrhythmias, reduced
exercise tolerance, hemodynamically significant TR, rightto-left shunting and embolism during pregnancy, overt
congestive cardiac failure, or pulmonary vascular disease
that may develop in up to 5% to 10% of affected (mainly
female) individuals.
2.5.4. Catheter Intervention
The development of percutaneous transcatheter closure
techniques has provided an alternative method of closure
for uncomplicated secundum ASDs with appropriate morphology (260 –262). Currently, the majority of secundum
ASDs can be closed with a percutaneous catheter technique.
When this is not feasible or is not appropriate, surgical
closure is recommended.
Sinus venosus, coronary sinus, and primum defects are
not amenable to device closure. An ASD with a large
septal aneurysm or a multifenestrated atrial septum requires careful evaluation by and consultation with interventional cardiologists before device closure is selected as
the method of repair.
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2.5.5. Key Issues to Evaluate and Follow-Up
Key issues to evaluate and monitor in adults with ASD are
listed in Table 10.
2.6. Recommendations for Postintervention
Follow-Up
CLASS I
1. Early postoperative symptoms of undue fever, fatigue, vomiting, chest pain, or abdominal pain may represent postpericardiotomy syndrome with tamponade and should prompt immediate evaluation with echocardiography. (Level of Evidence: C)
2. Annual clinical follow-up is recommended for patients postoperatively if their ASD was repaired as an adult and the following
conditions persist or develop:
a. PAH. (Level of Evidence: C)
b. Atrial arrhythmias. (Level of Evidence: C)
c. RV or LV dysfunction. (Level of Evidence: C)
d. Coexisting valvular or other cardiac lesions. (Level of Evidence: C)
3. Evaluation for possible device migration, erosion, or other
complications is recommended for patients 3 months to 1 year
after device closure and periodically thereafter. (Level of
Evidence: C)
4. Device erosion, which may present with chest pain or syncope,
should warrant urgent evaluation. (Level of Evidence: C)
Follow-up for patients after device closure requires clinical
assessment of symptoms of arrhythmia, chest pain, or embolic events and echocardiographic surveillance for device
position, residual shunting, and complications such as thrombus formation or pericardial effusion. The frequency of
echocardiographic follow-up is usually at 24 hours, 1 month,
6 months, and 1 year and at regular intervals thereafter.
Pericardial effusions and cardiac tamponade may occur up
to several weeks after surgical repair of ASDs and should be
evaluated by clinical examination and echocardiography before hospital discharge and at the early postoperative visits.
Patients and their primary care physicians should be instructed to report fever or unusual symptoms of chest or
abdominal pain and vomiting or undue fatigue in the first
weeks after surgery, because they might represent early signs
of cardiac tamponade. Assessment of pulmonary pressure,
RV function, and residual atrial shunting should also be made
during follow-up echocardiography. Clinical and ECG surveillance for recurrent or new-onset arrhythmia is an important feature of postoperative evaluation. Periodic long-term
clinical follow-up is required for patients postoperatively if
their ASD was repaired as an adult, if PAH was present
preoperatively, if there were atrial arrhythmias either preoperatively or postoperatively, if there was RV or LV dysfunction preoperatively or postoperatively, or if there are coexisting valvular or other cardiac lesions. Patients with ASD who
have undergone surgical closure in childhood are generally
free of late complications.
2.6.1. Endocarditis Prophylaxis
Endocarditis does not occur in patients with isolated ASDs
and is usually associated with concomitant valvular lesions,
such as a cleft mitral valve (94). Endocarditis prophylaxis is
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Table 10.
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Key Issues to Evaluate and Monitor in Adults With Atrial Septal Defects
Before Intervention
After Intervention
Symptoms
After surgical intervention
● Dyspnea
● Pericardial effusion/constriction
● Fatigue
● Residual shunt
● Exercise intolerance
● RV systolic and diastolic dysfunction
● Palpitations
● Pulmonary artery pressure
● Syncope
● Mitral regurgitation
● Pulmonary vein stenosis or caval vein stenosis (sinus venosus defects)
Shunt size
● RV volume overload by echocardiography
● Pulmonary plethora on chest x-ray
Defect size, location, and septal rims
● Secundum
● Arrhythmia
● Tricuspid regurgitation
After catheter intervention
● Device misalignment
● Primum
● Device embolization
● Sinus venosus
● Device erosion of atrial wall or aorta
● Coronary sinus
● Device impingement on adjacent structures
● AV valves
Associated lesions
● Cleft MV
● Coronary sinus
● Valvular PS
● SVC
● Anomalous pulmonary veins
● Pulmonary veins
● Mitral valve prolapse
● Aorta
● Persistent L-SVC
● Device thrombosis
● Associated coronary artery disease
● Endocarditis for the first 6 months or with a residual defect
● Residual shunt
Pulmonary pressure
● Echocardiography estimate by TR jet
● Systolic septal flattening
Arrhythmia
● Atrial fibrillation
● Atrial flutter
● Paroxysmal atrial tachycardia
● Sick sinus syndrome
● Heart block
Paradoxical embolus; avoid
● Venous stasis
● Unfiltered IV lines
● Indwelling catheters
RV indicates right ventricular; MV, mitral valve; PS, pulmonic stenosis; L-SVC, left superior vena cava; TR, tricuspid regurgitation;
IV, intravenous; AV, atrioventricular; and SVC, superior vena cava.
therefore not indicated for isolated ASDs before or after
surgery except for the first 6 months after closure (refer to
Section 1.6, Recommendations for Infective Endocarditis, for
additional information).
2.6.2. Recommendation for Reproduction
CLASS III
1. Pregnancy in patients with ASD and severe PAH (Eisenmenger
syndrome) is not recommended owing to excessive maternal
and fetal mortality and should be strongly discouraged. (Level
of Evidence: A)
Pregnancy in patients with ASDs is generally well tolerated, with no maternal mortality and no significant maternal
or fetal morbidity. Although the left-to-right shunt may
increase with the increase in cardiac output during pregnancy, this is counterbalanced by the decrease in peripheral
resistance.
Women with large shunts and PAH may experience arrhythmias, ventricular dysfunction, and progression of PAH.
Pregnancy in patients with ASD and severe PAH (Eisenmenger syndrome) is contraindicated owing to excessive
maternal and fetal mortality and should be strongly discouraged (263,264). Paradoxical embolism may occasionally be
encountered in small and large ASDs (134,265).
Familial occurrence of secundum ASDs is well recognized,
and in some kindreds, a defect has been localized to chromosome 5 (266). Familial ASD with AV conduction defect is an
autosomal dominant trait, with mutations in the cardiac
homeobox transcription factor gene NKX2–5 (267,268).
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Table 11.
Ventricular Septal Defect Nomenclature
VSD Type
Type 1
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Synonyms
● Conal
● Subpulmonary
Characteristics
● Lies beneath the semilunar valve(s) in the conal or
outlet septum
● Infundibular
● Supracristal
● Doubly committed juxta-arterial
Type 2
Type 3
● Perimembranous
● Confluent with the membranous septum
● Paramembranous
● Bordered by an AV valve, not including type 3 VSDs
● Conoventricular
● May extend into the inlet or outlet areas
● Inlet
● Involves the inlet of the ventricular septum immediately
inferior to the AV valve apparatus
● AV canal type
Type 4
● Muscular
● Completely surrounded by muscle
● May be midmuscular, apical, posterior, or anterior
● May be multiple
Modified from Jacobs JP, Burke RP, Quintessenza JA, Mavroudis C. Congenital heart surgery nomenclature and database project:
ventricular septal defect. Ann Thorac Surg. 2000;69:S25–35 (280). Copyright 2000, with permission from Elsevier.
AV indicates atrioventricular; and VSD, ventricular septal defect.
The risk of transmission of CHD to offspring of women
with sporadic ASD is estimated at 8% to 10% (133,269).
Genetic syndromes with skeletal abnormalities associated
with ASD include a variety of heart-hand syndromes, of
which Holt-Oram syndrome is best known (270 –272). Both
secundum and primum ASDs are associated with trisomy 21
(Down syndrome). Because of the possibility of familial
occurrence, a careful family history should be taken in
patients with ASD, and parents and offspring should be
evaluated clinically for possible septal defect, conduction
disturbances, and skeletal anomalies.
3. Ventricular Septal Defect
Congenital Heart Surgery Database Committee and representatives from the European Association for Cardiothoracic
Surgery developed a classification scheme, as shown in
Table 11.
Type 1 VSDs lie in the outflow portion of the RV and
account for approximately 6% of defects in non-Asian populations but up to 33% in Asian patients (278). Spontaneous
closure of this defect is uncommon.
Type 2 or perimembranous VSDs are the most common
defects, and almost 80% of defects are in this location. This
defect is in the membranous septum and is adjacent to the
septal leaflet of the tricuspid valve, which can become
adherent to the defect, thus forming a pouch or “aneurysm” of
the ventricular septum. This pouch will limit left-to-right
shunting and can result in partial or complete closure of the
defect. On the LV side of the septum, the defect is adjacent to
the aortic valve.
Type 3 or inlet VSDs occur in the lower part of the right
ventricle and adjacent to the tricuspid valve (278 –280). These
defects typically occur in patients with Down syndrome.
Type 4 or muscular VSDs can be located centrally (midmuscular), apically, or at the margin of the septum and RV
free wall. They can be multiple in number. Spontaneous
closure is common, and although these defects can account
for up to 20% of VSDs in infants, the incidence is much lower
in adults (276 –278).
3.1. Definition
VSD is the most common congenital heart defect at birth
(275) and presents in approximately 3.0 to 3.5 infants per
1000 live births. Because there is a high incidence of
spontaneous closure of small VSDs, the incidence is much
less in older infants and particularly in adults (276,277).
There are 4 anatomic types of VSDs (278 –280), with
multiple synonyms for each type. In an effort to establish a
unified reporting system, the Society for Thoracic Surgery’s
Although VSD is most often an isolated lesion, it is a
common component of complex abnormalities such as
conotruncal defects (eg, tetralogy of Fallot, TGA). VSD can
also be associated with left-sided obstructive lesions such as
SubAS and coarctation of the aorta. A subpulmonary (supracristal) VSD is often associated with progressive aortic valve
regurgitation caused by prolapse of the aortic cusp (usually
right) through the defect.
2.6.3. Activity
Patients with small ASDs and without PAH have normal
exercise capacity and do not need any limitation of physical
activity. In those patients with large left-to-right shunts,
exercise is often self-limited owing to decreased cardiopulmonary function (273). Symptomatic supraventricular or
ventricular arrhythmias may also compromise exercise capacity and impose limitations on engagement in competitive
sports. Patients with significant PAH (peak systolic pulmonary artery pressure greater than 40 mm Hg) should limit
their activity to low-intensity sports. Severe PAH with
right-to-left shunting is usually self-limiting, but participation
in athletics or active physical effort should be avoided (274).
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Table 12. Key Issues to Be Monitored in Adults With
Ventricular Septal Defects
Unrepaired or
Repaired/Catheter Closure
Repaired/Catheter Closure
● Development of aortic
regurgitation
● Degree of shunting if residual
VSD
● Assessment of associated
coronary artery disease
● Development of arrhythmia/heart
block
● Development of tricuspid
regurgitation
● Thromboembolic complications
(rare)
● Assessment of degree of
left-to-right shunt
● Development of
subpulmonary stenosis,
usually due to DCRV
● Development of discrete
subaortic stenosis
DCRV indicates double-chambered right ventricle; and VSD, ventricular
septal defect.
3.2. Clinical Course (Unrepaired)
It is unlikely for an adult with an isolated VSD to present with
no prior workup/diagnosis. Possible scenarios include the
following:
●
●
Unoperated Patient
VSD is characterized clinically by a systolic murmur that is
usually maximal at the left lower sternal border. When RV
pressure is low, the VSD murmur is blowing and pansystolic.
With incremental increases in RV pressure, the murmur is
shorter, softer, and lower pitched. Small, muscular VSDs are
usually very high-pitched and occupy early systole only
because muscular contraction closes the defect.
● Assessment of pulmonary
pressure
●
a small VSD who develop endocarditis may present with
pulmonary embolism or cerebral abscess. Spontaneous closure of small defects can occur at any age but most commonly
occurs in infancy (277,281,282). Postsurgical presentations
include signs and symptoms associated with IE, AR, heart
block, LV dysfunction, PAH, TR, recurrent VSD, and ventricular arrhythmias.
● Ventricular dysfunction
●
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An asymptomatic patient with a systolic murmur previously thought to be an innocent murmur
Fever and bacteremia secondary to IE
A new diastolic murmur of AR secondary to aortic valve
prolapse
Cyanosis and exercise intolerance secondary to the progressive development of pulmonary vascular disease.
Clinical presentation in an isolated VSD depends largely on
defect size and PVR. Small defects that are less than or
approximately equal to 25% the size of the aortic annulus
diameter have small left-to-right shunts, no left ventricle volume
overload, and no PAH and present as systolic murmurs.
VSDs that are more than 25% but less than 75% of the
aortic diameter can be classified as moderate in size, with
small to moderate left-to-right shunts, mild to moderate LV
volume overload, and mild or no PAH. Patients may remain
asymptomatic or develop symptoms of mild congestive heart
failure. Symptoms usually abate with medical treatment and
with time as the size of the VSD decreases in absolute terms
or relative to increasing body size.
If the defect is large (greater than or equal to 75% of the
aortic diameter), there is usually a moderate to large left-toright shunt, LV volume overload, and PAH. Most adult
patients with large VSDs will have a history of congestive
heart failure in infancy. Rarely, patients with large VSDs do
not develop large left-to-right shunts and do not have the
normal postnatal fall in PVR. They can present with rightto-left shunting and Eisenmenger syndrome later in childhood
or as adolescents or young adults. Key issues to follow in
patients with VSD are summarized in Table 12. Patients with
In patients with large VSD and significant PAH, the ECG will
show biventricular hypertrophy or isolated RV hypertrophy,
depending on the extent to which the LVOT has diminished
in response to the reduction in left-to-right shunt.
3.3.3. Chest X-Ray
Patients with a small VSD will have a normal chest x-ray.
The presence of a significant left-to-right shunt will create the
appearance of left atrial and LV enlargement and increased
pulmonary vascular markings. Patients with significant PAH
will not demonstrate LV enlargement but will have a prominent pulmonary artery segment and diminished pulmonary
vascular markings at the periphery of the lung.
Echocardiography-Doppler is the mainstay of modern diagnosis. Transthoracic echocardiographic studies are almost
always diagnostic in children and adolescents and in most
adults with good echocardiographic windows. Data to be
obtained include the number of defects, location of defect(s),
chamber sizes, ventricular function, presence or absence of
aortic valve prolapse and/or regurgitation, presence or absence of RV or LV outflow obstruction, and presence or
absence of TR. Estimation of RV systolic pressure from TR
jet, VSD jet, and/or septal configuration should be a part of
the study. In adults with poor echocardiographic windows,
TEE may be necessary.
Echocardiography-Doppler of postoperative patients
should focus on the presence or absence and location of
residual shunting and the evaluation of pulmonary artery
pressure by TR or pulmonary regurgitation jet velocity. In
addition, patients should be evaluated for AR, ventricular
function, and RV or LV outflow obstruction.
Tomography
MRI or CT may be useful, if local expertise in cardiac studies
is available, for the following:
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Assessment of pulmonary artery, pulmonary venous, and
aortic anatomy if there are coexisting lesions
To confirm the anatomy of unusual VSDs such as inlet or
apical defects not well seen by echocardiography.
3.3.6. Recommendations for Cardiac Catheterization
CLASS I
1. Cardiac catheterization to assess the operability of adults with
VSD and PAH should be performed in an ACHD regional center
in collaboration with experts. (Level of Evidence: C)
CLASS IIa
1. Cardiac catheterization can be useful for adults with VSD in
whom noninvasive data are inconclusive and further information is needed for management. Data to be obtained include
the following:
a. Quantification of shunting. (Level of Evidence: B)
b. Assessment of pulmonary pressure and resistance in patients with suspected PAH. Reversibility of PAH should be
tested with various vasodilators. (Level of Evidence: B)
c. Evaluation of other lesions such as AR and doublechambered right ventricle. (Level of Evidence: C)
d. Determination of whether multiple VSDs are present before
surgery. (Level of Evidence: C)
e. Performance of coronary arteriography is indicated in patients at risk for coronary artery disease. (Level of Evidence: C)
f. VSD anatomy, especially if device closure is contemplated.
3.4. Diagnostic Problems and Pitfalls
Problems and pitfalls in the diagnosis of adults with VSDs
include the following:
●
●
●
●
Patients with loud murmur of a known small VSD may
develop double-chambered right ventricle or SubAS with
little appreciable change in murmur.
Patients with a small VSD and aortic valve prolapse may
develop progressive AR.
Patients with unrecognized RV outflow obstruction associated with a VSD may have a high-velocity TR jet and
may be assumed to have PAH.
A VSD jet may be mistaken for a TR jet in a patient with
normal pulmonary pressure assumed to have PAH.
3.5.1. Recommendation for Medical Therapy
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2. Closure of a VSD is indicated when there is a Qp/Qs (pulmonary–to–systemic blood flow ratio) of 2.0 or more and clinical
evidence of LV volume overload. (Level of Evidence: B)
3. Closure of a VSD is indicated when the patient has a history of
IE. (Level of Evidence: C)
CLASS IIa
1. Closure of a VSD is reasonable when net left-to-right shunting
is present at a Qp/Qs greater than 1.5 with pulmonary artery
pressure less than two thirds of systemic pressure and PVR
less than two thirds of systemic vascular resistance. (Level of
Evidence: B)
2. Closure of a VSD is reasonable when net left-to-right shunting
is present at a Qp/Qs greater than 1.5 in the presence of LV
systolic or diastolic failure. (Level of Evidence: B)
CLASS III
1. VSD closure is not recommended in patients with severe irreversible PAH. (Level of Evidence: B)
Primary operation for isolated VSD includes patch closure,
usually with a synthetic material (eg, Dacron, polytetrafluoroethylene [Gore-Tex]), and, rarely, primary closure. Careful
intraoperative inspection of the muscular septum by TEE is
indicated to rule out associated VSDs that might manifest by
shunting only after closure of the dominant VSD. Associated
RV outflow obstruction should be treated with resection or
RV outflow patch enlargement, AR by aortic valve replacement (AVR), and SubAS usually by resection of a subaortic
membrane and rarely by a Konno procedure tricuspid valve
repair if there is associated significant TR.
Early mortality is approximately 1% in the absence of
elevated PVR. Late survival is excellent when ventricular
function is normal. PAH may regress, progress, or remain
unchanged. Atrial fibrillation may occur and is more likely if
there has been chronic volume overload resulting in left atrial
dilatation. Complete heart block may occur early or late after
surgical repair. Ventricular arrhythmias are uncommon unless
repair is performed late in life. The need for reoperation for a
residual VSD is uncommon. Late reoperation is occasionally
required for TR or AR.
3.5.3. Recommendation for Interventional
Catheterization
CLASS IIb
1. Device closure of a muscular VSD may be considered, especially if the VSD is remote from the tricuspid valve and the
aorta, if the VSD is associated with severe left-sided heart
chamber enlargement, or if there is PAH. (Level of Evidence: C)
CLASS IIB
1. Pulmonary vasodilator therapy may be considered for adults
with VSDs with progressive/severe pulmonary vascular disease
(refer to Section 9, Pulmonary Hypertension/Eisenmenger Physiology). (Level of Evidence: B)
3.5.2. Recommendations for Surgical Ventricular
Septal Defect Closure
CLASS I
VSD closure operations. (Level of Evidence: C)
Indications for catheter device closure of VSD include
residual defects after prior attempts at surgical closure,
restrictive VSDs with a significant left-to-right shunt, trauma,
or iatrogenic artifacts after surgical replacement of the aortic
valve. Indications for closure of restrictive VSDs in the adult
population include a history of bacterial endocarditis or a
hemodynamically significant left-to-right shunt (Qp/Qs
greater than 1.5:1).
Percutaneous closure of VSD offers an attractive alternative to surgical management in patients with increased surgi-
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cal risk factors, multiple previous cardiac surgical interventions, poorly accessible muscular VSDs, or “Swiss cheese”–
type VSDs. At the time of this writing, US Food and Drug
Administration approval for device closure of VSDs in the
United States is limited to closure of muscular VSDs.
Experience with percutaneous closure of other types of VSDs
has been obtained at centers outside the United States or in
centers with investigational protocols.
Complications have been reported in as many as 10.7% of
patients and most frequently include rhythm and conduction
abnormalities, as well as hypotensive episodes or blood loss
(283); however, complications are significantly associated
with a lower patient weight (below 10 kg), and therefore the
adult population is likely to represent a lower-risk group for
percutaneous closure of muscular VSDs. Complications after
closure of perimembranous VSDs predominantly include
rhythm and conduction abnormalities, as well as the potential
for new or increased AR or TR, which is usually of a trivial
or mild degree.
Success rates of the procedure are high, with closure rates
with the membranous device of up to 92% at 15 minutes after
device implantation and a 92% rate of complete closure at the
12-month follow-up for device closure of muscular VSD.
These results, unfortunately, are not matched in patients
undergoing closure of a postinfarct VSD because of the often
moribund status of these patients and the tendency of the
VSD to enlarge over time owing to ongoing necrosis.
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Women with small VSDs, no PAH, and no associated
lesions have no increased cardiovascular risk for pregnancy.
Women with PAH should be counseled against pregnancy
(refer to Section 9, Pulmonary Hypertension/Eisenmenger
Physiology).
Pregnancy is generally well tolerated, with no maternal
mortality and no significant maternal or fetal morbidity.
Although the left-to-right shunt may increase with the increase in cardiac output during pregnancy, this is counterbalanced by the decrease in peripheral resistance. Women with
large shunts and PAH may experience arrhythmias, ventricular dysfunction, and progression of PAH.
3.6.3. Activity
No activity restrictions are indicated for patients with small
VSDs, no associated lesions, and normal ventricular function.
If pulmonary vascular disease is present, activity is usually
self-restricted, but patients should be advised against strenuous exercise or travel to altitudes above 5000 feet. Longdistance air travel should be approached with caution to
avoid dehydration, with specific recommendation by an
ACHD specialist concerning the need for supplemental
oxygen (refer to Section 9, Pulmonary Hypertension/Eisenmenger Physiology).
4. Atrioventricular Septal Defect
4.1. Definition
3.6.1. Recommendations for Surgical and Catheter
Intervention Follow-Up
CLASS I
1. Adults with VSD with residual heart failure, shunts, PAH, AR, or
RVOT or LVOT obstruction should be seen at least annually at
an ACHD regional center. (Level of Evidence: C)
2. Adults with a small residual VSD and no other lesions should be
seen every 3 to 5 years at an ACHD regional center. (Level of
Evidence: C)
3. Adults with device closure of a VSD should be followed up every
1 to 2 years at an ACHD center depending on the location of
the VSD and other factors. (Level of Evidence: C)
Adults with no residual VSD, no associated lesions, and
normal pulmonary artery pressure do not require continued
follow-up at a regional ACHD center except on referral from
their cardiologist or physician. Patients who develop bifascicular block or transient trifascicular block after VSD
closure are at risk in later years for the development of
complete heart block and should be followed up yearly by
history and ECG and have periodic ambulatory monitoring
and/or exercise testing.
CLASS III
1. Pregnancy in patients with VSD and severe PAH (Eisenmenger
syndrome) is not recommended owing to excessive maternal
and fetal mortality and should be strongly discouraged. (Level
of Evidence: A)
The terms AVSD, AV canal defect, and endocardial cushion
defect can be used interchangeably to describe this group of
defects. The basic morphology of AVSD includes a large,
central defect that may lie above the AV valve (refer to
Section 2, Atrial Septal Defect) or may extend to variable
degrees above and below the AV valve; therefore, the
interventricular communication can range from large to
small. There is a common AV valve annulus that stretches
across both ventricles. There may be a common superior
leaflet, or the superior leaflet may be separated at its distal
margin into right and left components. The AV valve may be
misaligned with respect to the ventricles, in association with
hypoplasia of the right or left ventricle. The left AV valve is
a trileaflet valve made of superior and inferior bridging
leaflets separated by a mural leaflet. There may be abnormal
lateral rotation of the posteromedial papillary muscle. Most
complete AVSDs are in Down syndrome patients (more than
75%). Most partial AVSDs occur in non–Down syndrome
patients (more than 90%).
4.2. Associated Lesions
Tetralogy of Fallot and other conotruncal anomalies and
heterotaxy syndromes also occur in association with AVSD.
Most patients will have had surgery in childhood. The
unrepaired adult may be asymptomatic or may present with
congestive heart failure, exertional limitation, PAH and
cyanosis, IE, or atrial flutter/fibrillation. Patients with partial
AVSD are likely to become symptomatic at a younger age if
significant left AV valve regurgitation is present.
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Physical examination of the unoperated patient may show
findings of an ASD, a VSD, AV valve regurgitation, LVOT
obstruction, or PAH with cyanosis. A patient with severe
PAH may have no murmur, a single loud second heart sound,
and cyanosis/clubbing.
The typical repaired patient will have a normal examination apart from an apical systolic murmur if there is residual
mitral regurgitation or subaortic obstruction. Subaortic obstruction may occur naturally in association with abnormal
AV valve attachments or may be the consequence of surgery.
In addition, the surgical repair may have created AV valve
stenosis. Cyanosis should not be present in the absence of
Eisenmenger syndrome or RV outflow obstruction.
MRI may be useful to evaluate venous and arterial anatomy
when associated lesions are suspected. Three-dimensional
MRI is sometimes helpful in delineating leaflet morphology
and outflow anatomy.
The typical ECG shows superior left-axis deviation with a
counterclockwise loop in the frontal plane. First-degree AV
block may be present. Atrial flutter or fibrillation may
develop in the older patient. Left atrial enlargement and LV
hypertrophy may be present if there is significant left AV
valve regurgitation. RV hypertrophy may predominate if
there is PAH or associated RVOT obstruction.
4.3.3. Chest X-Ray
Cardiomegaly may be present due to dilation of the right or
left AV heart chambers, depending on the degree and direction of AV valve regurgitation and the degree and level of
left-to-right shunting. Increased pulmonary vascular markings are present when there is a significant left-to-right shunt.
Pulmonary venous congestion may be seen when there is
long-standing mitral regurgitation. In patients with PAH, a
prominent main pulmonary artery segment and pruning of
distal pulmonary vessels may be present.
In the patient with a partial and unrepaired AVSD, TTE is the
primary imaging modality and should include demonstration
of the borders of the primum ASD, a VSD (if present), the
morphology and function of the AV valve, ventricular size
and shunting, and SubAS (if present). In the patient with a
complete and unrepaired AVSD, this will include the presence and size of the septal defect, the morphology and
function of the common AV valve, and ventricular size and
function. When the ventricular portion of the septal defect is
large, the ventricular septum may be deficient apically and
inferiorly. Pulmonary artery pressures (expected to be very
high in complete AVSD) should be evaluated by measuring
TR and pulmonary regurgitation jet velocity with simultaneous systemic blood pressure measurement. Evidence of
subaortic obstruction, caused by AV valve attachments to the
crest of the interventricular septum, should be sought by
imaging and Doppler. In the postrepair patient, residua may
include left AV valve dysfunction, SubAS, VSD patch leak,
and PAH. It may be difficult to distinguish residual LV to
right atrial shunt from TR with RV hypertension. The
failure to distinguish these may result in erroneous diagnosis of PAH.
4.3.6. Recommendation for Heart Catheterization
CLASS IIa
1. Cardiac catheterization is reasonable to assess PAH and test
vasoreactivity in patients with repaired or unrepaired AVSD.
Heart catheterization has a limited role in the assessment of
these patients unless noninvasive findings are equivocal.
Evaluation of PAH and coronary anatomy may be needed
when reoperation is being considered. Hemodynamic data
may also be needed when noninvasive studies have not been
able to provide this information.
Exercise testing may be used to objectively assess functional
capacity.
4.4.1. Medical Therapy
Most patients need no regular medication in the absence of
specific problems. ACE inhibitors and/or diuretics may be
used in patients with AV valve regurgitation and symptoms of chronic heart failure. Pulmonary vasodilation
therapy may be indicated in patients with PAH and no
significant left-to-right shunt who are deemed to be at high
risk for surgical repair, but this should be approached with
caution because of the potential for producing a significant
right-to-left shunt.
4.4.2. Recommendations for Surgical Therapy
CLASS I
operations for AVSD. (Level of Evidence: C)
2. Surgical reoperation is recommended in adults with previously
repaired AVSD with the following indications:
a. Left AV valve repair or replacement for regurgitation or
stenosis that causes symptoms, atrial or ventricular arrhythmias, a progressive increase in LV dimensions, or deterioration of LV function. (Level of Evidence: B)
b. LVOT obstruction with a mean gradient greater than
50 mm Hg or peak instantaneous gradient greater than
70 mm Hg, or a gradient less than 50 mm Hg in association
with significant mitral regurgitation or AR. (Level of Evidence: B)
c. Residual/recurrent ASD or VSD with significant left-to-right
shunting (refer to Section 2, Atrial Septal Defect, and
Section 3, Ventricular Septal Defect). (Level of Evidence: B)
Primary operation is rarely recommended for complete
AVSD in adults because of pulmonary vascular obstructive
disease. Unoperated partial or transitional AVSD, also known
as partial or transitional AV canal, may not be identified until
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adulthood. Primary repair is generally recommended provided there is no fixed PAH.
Complete AVSD is usually repaired during infancy because of the risk of accelerated pulmonary vascular disease.
Partial AVSD, also known as partial AV canal, is usually
repaired in early childhood. The timing of repair of intermediate or transitional AVSD depends on the size of the VSD
and the degree of shunting. Complete repair usually includes
patch closure of the septal defect. Suture of the cleft in the left
AV valve is dependent on leaflet morphology and surgical
choice. Pulmonary artery banding of complete AVSD is
rarely performed and is reserved for complex lesions.
Rerepair includes valve repair or replacement for left AV
regurgitation or stenosis. LVOT obstruction is treated most
commonly by resection of the fibrous stenosis/membrane,
modified Konno procedure, or Konno-Rastan procedure.
Suture or patch closure is performed for residual/recurrent
ASD or VSD. A concomitant Maze procedure may be
performed for intermittent or chronic atrial fibrillation/flutter.
Management of patients should be in tertiary CHD centers or
children’s hospitals with experienced medical and surgical
personnel.
4.5.1. Key Postoperative Issues
Late complications may include left AV valve regurgitation
and/or stenosis, LVOT obstruction with or without AR, and
the development of heart block. Left AV valve regurgitation
or stenosis requiring reoperation may occur in approximately
5% to 10% of patients. LVOT obstruction may occur in 5%
of patients.
In the patient with prior repair, the onset of atrial arrhythmias should prompt a search for an underlying hemodynamic
abnormality. Subaortic obstruction should be ruled out when
there is a loud or harsh systolic murmur. Progressive left AV
valve regurgitation may occur. The presence of an apical
diastolic rumble without evidence of left-sided heart volume
overload should prompt evaluation for left AV valve stenosis,
particularly when there is evidence of PAH.
4.5.2. Evaluation and Follow-Up of the Repaired
Patient
All patients should be assessed by and have periodic or
regular follow-up with a cardiologist who has expertise in
ACHD. The frequency, although typically annual, may be
determined by the extent and degree of residual abnormalities. Appropriate imaging (2-dimensional and Doppler echocardiography in most patients) should be undertaken by staff
trained in imaging of complex congenital heart defects and
should include serial observation of AV valve function and
evaluation of the LVOT. Periodic 24-hour ambulatory monitoring should be performed to assess rhythm abnormalities.
Periodic cardiopulmonary testing may be helpful. Other
testing should be arranged in response to clinical problems.
e41
conduction system at risk for injury during surgical repair
(169). Functional properties of these displaced conduction
tissues can be suboptimal early in life (including the possibility of congenital complete heart block) and may worsen
with age. For these reasons, the status of AV conduction must
be monitored regularly with ECG and periodic Holter monitoring in adults with repaired or palliated AVSD.
4.5.4. Recommendations for Endocarditis Prophylaxis
CLASS IIa
or perforation of the oral mucosa is reasonable in patients with
CHD with the highest risk for adverse outcome from IE,
including those with the following indications:
cardiac valve repair. (Level of Evidence: B)
placed by surgery or by catheter intervention, during the
first 6 months after the procedure. (Level of Evidence: B)
e. Repaired CHD with residual defects at the site or adjacent
to the site of a prosthetic patch or prosthetic device that
inhibit endothelialization. (Level of Evidence: B)
CLASS III
4.6. Reproduction
4.6.1. Genetic Aspects
Trisomy 21, or Down syndrome, is commonly seen in
association with AVSD. Such patients have a 50% risk of
transmitting trisomy 21 and other genetic defects to their
offspring. Reproductive counseling and discussion with the
patient and those with medical power of attorney is
warranted.
4.6.2. Recommendations for Pregnancy
CLASS I
4.5.3. Electrophysiology Testing/Pacing Issues in
Atrioventricular Septal Defects
In AVSD, the AV node and bundle of His are displaced
inferiorly along the AV ring (182). This position puts the
1. All women with a history of AVSD should be evaluated before
conception to ensure that there are no significant residual
hemodynamic lesions that might complicate the management
of pregnancy. (Level of Evidence: C)
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2. The issue of pregnancy risk and preventive measures should be
discussed with women with Down syndrome and their caregivers. (Level of Evidence: C)
Pregnancy is usually well tolerated by women who have
had repair and who have no major residua, as well as by
women with a primum defect who are functionally well.
Pregnancy is not advised for women with severe PAH.
4.7. Exercise
Most patients with uncomplicated, repaired AVSD can enjoy
unlimited activity. Most will have subnormal exercise performance when measured objectively, but this typically does not
impact on a normal lifestyle. Patients with important clinical
problems (eg, severe left AV valve regurgitation, ongoing
arrhythmias, or important LVOT obstruction) will often be
advised to limit their activity. Advice regarding elite athletic
activity should be individualized.
5. Patent Ductus Arteriosus
5.1. Definition and Associated Lesions
PDA is a persistent communication between the aorta and the
pulmonary artery. It can be isolated or may be present in
association with all forms of CHD. The most common
associated lesions are VSDs or ASDs.
5.2. Presentation and Clinical Course
Unoperated patients may present with a heart murmur or
symptoms caused by a large left-to-right shunt, including
shortness of breath and easy fatigability. If the PDA is large
and nonrestrictive, the patient may present with Eisenmenger
physiology, including differential cyanosis and clubbing.
Patients are at an increased risk of developing endarteritis,
heart failure, and pulmonary vascular disease.
Unoperated Patient
CLASS I
1. Definitive diagnosis of PDA should be based on visualization by
imaging techniques and demonstrations of the shunting across
the defect (with or without evidence of clinically significant LV
volume overload). (Level of Evidence: C)
CLASS III
1. Diagnostic cardiac catheterization is not indicated for uncomplicated PDA with adequate noninvasive imaging. (Level of
Evidence: B)
2. Maximal exercise testing is not recommended in PDA with
significant PAH. (Level of Evidence: B)
The diagnostic workup for a patient with a suspected PDA
is directed at defining the presence and size of the PDA, the
functional effect of the shunt on the left atrium and left
ventricle, the pulmonary circulation, and any associated
lesions.
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If the PDA is moderate or large, the presence of a continuous
machinery-type murmur, heard best at the left infraclavicular
area, and increased pulses are almost diagnostic. If PAH is
present, only a systolic murmur may be heard. A wide pulse
pressure is present when the PDA is large and there is a large
left-to-right shunt. This must be distinguished from other
causes of wide pulse pressure, such as aortic insufficiency
and hyperthyroidism. In a patient with a large ductus and
PAH, the oxygen saturation in the upper and lower extremities may be helpful in diagnosis of a large PDA with
right-to-left shunt at the ductal level, because unoxygenated
blood from the ductus enters the aorta distal to the left
subclavian artery, causing cyanosis and often clubbing in the
lower extremities.
The ECG may be normal if the ductus is small or may show
left atrial enlargement and LV hypertrophy if there is a
moderate left-to-right shunt. RV hypertrophy may be present
if there is PAH.
Echocardiography with color Doppler in the parasternal
short-axis view is diagnostic of a PDA. Measurement of the
transpulmonary gradient across the ductus with continuouswave Doppler can estimate the pulmonary artery pressure;
however, in cases of significant elevation of PVR, echocardiography may not be diagnostic, and cardiac catheterization
and angiography may be indicated.
5.3.4. Chest X-Ray
The chest x-ray may or may not show cardiomegaly and
increased pulmonary vascular markings, depending on the
size of the left-to-right shunt. There may be a prominent
proximal pulmonary artery segment indicating elevated pulmonary artery pressure. An enlarged left atrium and left
ventricle due to the left-to-right shunt may point to the
presence of a significant PDA. One should look for calcification in the region of the ductus, because a calcified ductus
is at an increased risk of rupture during surgical repair
(284 –286).
5.3.5. Cardiac Catheterization
During cardiac catheterization, it is important to evaluate the
degree of shunt (in either direction), the PVR, and the
reactivity of the vascular bed. Angiography can determine
the size and shape of the ductus. If size and shape are
suitable, the PDA can be treated in the catheterization
laboratory.
Computed Tomography
Other diagnostic tests including CT scan or MRI of the chest
usually are not necessary to diagnose a PDA.
5.4. Problems and Pitfalls
The differential diagnosis of a PDA on physical examination
includes an aortopulmonary collateral, coronary arteriovenous fistula (CAVF), ruptured sinus of Valsalva, and a
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VSD with associated AR. It is important to differentiate
between PDA and coronary AV fistulas, which may have
similar findings. Echocardiography and/or angiography
should be able to differentiate all of these conditions. In older
adults, the calcified ductus poses a surgical risk, and catheter
intervention should be the first option.
The anatomy of the PDA in the adult is remarkable for the
presence of calcification and general tissue friability in the
area of the aortic isthmus and pulmonary artery, which makes
surgical manipulation in the adult more hazardous than in the
child. The need for surgical closure of a PDA in the adult is
uncommon. When a PDA occurs in isolation, device closure
is usually feasible. A PDA in combination with other intracardiac pathology may be closed at the time of cardiac
operation. However, when cardiac operation is required for
other reasons (eg, coronary artery bypass grafting), preoperative device closure of the PDA should be considered given
the potential anatomic difficulties often encountered with the
PDA in the adult population.
The primary surgical approach may be via thoracotomy or
sternotomy, with or without cardiopulmonary bypass. The
presence of ductal calcification in the adult can increase
surgical risk. Ligation and division or patch closure from
inside the main pulmonary artery or inside the aorta can be
performed, depending on the presence or absence of ductal
calcification. The majority of PDAs (greater than 95%) can
be closed by operation, and early mortality is low. Recanalization is rare. Complications may include recurrent laryngeal
nerve or phrenic nerve injury or thoracic duct injury.
CLASS I
1. Routine follow-up is recommended for patients with a small
PDA without evidence of left-sided heart volume overload.
Follow-up is recommended every 3 to 5 years for patients with
a small PDA without evidence of left-heart volume overload.
CLASS III
1. Endocarditis prophylaxis is not recommended for those with a
repaired PDA without residual shunt. (Level of Evidence: C)
5.5.2. Recommendations for Closure of Patent
Ductus Arteriosus
CLASS I
1. Closure of a PDA either percutaneously or surgically is indicated for the following:
a. Left atrial and/or LV enlargement or if PAH is present, or in
the presence of net left-to-right shunting. (Level of Evidence: C)
b. Prior endarteritis. (Level of Evidence: C)
2. Consultation with ACHD interventional cardiologists is recommended before surgical closure is selected as the method of
repair for patients with a calcified PDA. (Level of Evidence: C)
3. Surgical repair by a surgeon experienced in CHD surgery is
recommended when:
a. The PDA is too large for device closure. (Level of Evidence: C)
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b. Distorted ductal anatomy precludes device closure (eg, aneurysm or endarteritis). (82) (Level of Evidence: B)
CLASS IIa
1. It is reasonable to close an asymptomatic small PDA by
catheter device. (Level of Evidence: C)
2. PDA closure is reasonable for patients with PAH with a net
left-to-right shunt. (Level of Evidence: C)
CLASS III
1. PDA closure is not indicated for patients with PAH and net
right-to-left shunt. (Level of Evidence: C)
5.5.3. Surgical/Interventional Therapy
Currently, the 2 approaches for PDA closure are surgical
closure (285,286) and percutaneous catheter closure.
(287–316) Surgical closure of PDA in the adult may pose
some problems due to the friability and/or calcification of the
ductus, atherosclerosis, and aneurysm formation, as well as
the presence of other unrelated comorbid conditions, such as
coronary atherosclerosis or renal disease, that may adversely
affect the perioperative risk. Adults with PDA are better
suited for percutaneous closure with either the occlusion
device or coils because of its high success and few complications (317). If the PDA is associated with other conditions
that require surgical correction, the ductus may be closed
during the same operation, although percutaneous closure of
the PDA before other cardiac surgery may decrease the risk of
cardiopulmonary bypass.
Adults with large PDAs are likely to have Eisenmenger
physiology. Such patients require frequent follow-up to
monitor their progress/deterioration. Problems associated
with Eisenmenger physiology are discussed in Section 9,
Pulmonary Hypertension/Eisenmenger Physiology.
Patients who have undergone surgical/PDA closure can be
discharged safely from follow-up once complete closure of
the ductus is documented by TTE. Antibiotic prophylaxis is
discontinued 6 months after PDA closure. Follow-up approximately every 5 years for patients who received a device is
recommended because of the lack of long-term data on device
closure with the occlusion device.
6. Left-Sided Heart Obstructive Lesions:
Aortic Valve Disease, Subvalvular and
Supravalvular Aortic Stenosis,
Associated Disorders of the Ascending
Aorta, and Coarctation
LVOT obstruction syndromes include SubAS, valvular AS,
SupraAS, and aortic coarctation (318). Obstruction can occur
singly or at multiple levels, as an isolated lesion or in
combination with septal defects or conotruncal anomalies.
6.1. Definition
BAV is one of the most common congenital cardiovascular
malformations, with an estimated incidence of 1% to 2% of
the population. The prevalence of AS is harder to calculate
because, unlike many other congenital heart lesions, a BAV
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may develop significant obstruction or regurgitation after
midlife, with a peak age range for surgical intervention
between 60 and 80 years (275,319). There is male preponderance for AS. A BAV may be inherited, and family clusters
have been studied (319,320).
BAV abnormalities arise from abnormal cusp formation
during valvulogenesis, commonly with fusion between 2
cusps, forming 1 smaller and 1 larger cusp. Variants range
from a nearly trileaflet aortic valve with cusp inequality to a
unicuspid and dysplastic valve. A BAV can be predominately
obstructive or regurgitant, depending on the degree of commissural fusion. The valve may dome in systole, but a
dysplastic valve is poorly mobile and does not dome. In many
patients with BAV, the histology of the aortic wall is similar
to Marfan syndrome, with abnormalities of smooth muscle,
extracellular matrix, elastin, and collagen (321–323).
In general, the severity of valvular AS in adults is graded
mild, moderate, or severe on the basis of the valve area and
jet velocity across the aortic valve as measured by Doppler
echocardiography. Degrees of AS are defined in the 2006
ACC/AHA valvular heart disease guidelines as mild (a valve
area greater than 1.5 cm2, mean gradient less than 25 mm Hg,
or jet velocity less than 3.0 ms), moderate (valve area 1.0 to
1.5 cm2, mean gradient 25 to 40 mm Hg, or jet velocity 3.0 to
4.0 ms), or severe (valve area less than 1.0 cm2, mean
gradient greater than 40 mm Hg, or jet velocity greater than
4.0 m per s). Not all experts agree with these specifics, but
these values provide a frame of reference in discussing
severity of AS. In adolescents and young adults less than 30
years of age, AS severity is often reported on the basis of the
mean gradient measured by Doppler echocardiography (112).
Abnormalities associated with BAV disease include SubAS,
parachute mitral valve, VSD, PDA, or coarctation of the aorta
with varying degrees of arch hypoplasia. A left-dominant
coronary artery system is more frequent with BAV (324).
Turner syndrome may be associated with AS in addition to
aortic coarctation. The presence of multiple levels of
left-sided heart obstructions (eg, SubAS, BAV, AS, coarctation, parachute mitral valve, or supramitral ring) is
termed Shones syndrome. Patients presenting in childhood
with LVOT obstruction generally have more complex or
severe disease than those found to have BAV in adult life.
BAV disease can be associated with progressive dilation of
the aortic root, aortic aneurysm, and even rupture or
dissection; intrinsic abnormalities of aortic wall elastin
may result in ascending aortic dilation even with a normally functioning aortic valve.
In adults, in the absence of superimposed acute endocarditis,
BAV disease is usually a slowly progressive disorder with
gradual development and progression of AS or AR (325,326).
Asymmetrical flow patterns with turbulence subject the BAV
to abnormally high stresses, which leads to thickening,
calcification, and progressive stenosis or leaflet retraction
and AR (42).
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Evidence of echocardiographic “sclerosis” may be seen as
early as the second decade, and calcification is often evident
by the fourth decade (327). Most patients older than 45 years
have significant BAV calcification and/or thickening, which
often relates to hemodynamic severity. The presence of risk
factors, such as hyperlipidemia, appears to be associated with
progression of BAV stenosis (328,329).
Progressive AS is the most common complication of BAV,
and many patients will require valve surgery or percutaneous
valvuloplasty, with only one third or fewer remaining functionally normal by the fifth decade of life (330). The rate of
progression of valvular AS is faster in those valves with
anteroposterior-oriented line of closure and in those with
greater closure-line eccentricity (327). In such patients, the
BAV systolic peak pressure gradient increased 27 mm Hg per
decade. Concomitant AR can also accelerate progression of
valvular AS (327).
In addition to ascending aorta aneurysms and dissections,
there can be familial aortocervicocephalic arterial dissections
in conjunction with BAV disease (331). In a longitudinal
study of the long-term outcomes of 622 adults with asymptomatic but hemodynamically severe AS at study inception,
most developed symptoms within 5 years, and sudden death
occurred at a rate of 1% per year (332).
Gradual progression of AR may occur in BAV due to
several mechanisms (ie, leaflet prolapse or fibrosis and leaflet
edge retraction or aortic root dilatation). Abrupt AR occurs
owing to IE with leaflet destruction or perforation or, rarely,
owing to loss of suspension of a leaflet due to intimal aortic
dissection. Rarely, a flail aortic valve occurs spontaneously as
a result of rupture of tenuous support at a raphe. Aortic
dissection is well described in BAV, particularly if associated
with aortic coarctation (333–335). The risk of aortic dissection in BAV is estimated at 5 to 9 times that of the general
population (334,336).
Unoperated Patient
Recommendations and guidelines concerning AS, BAV, and
AR in the adult patient are also discussed in the 2006 valvular
heart disease guidelines (112).
CLASS I
1. Primary imaging and hemodynamic assessment of AS and
aortic valve disease are recommended by echocardiographyDoppler to evaluate the presence and severity of AS or AR; LV
size, function, and mass; and dimensions and anatomy of the
ascending aorta and associated lesions. (Level of Evidence: B)
2. Echocardiography is recommended for reevaluation of patients
with AS who experience a change in signs or symptoms and for
assessment of changes in AS hemodynamics during pregnancy. (Level of Evidence: B)
3. In asymptomatic adolescents and young adults, echocardiography-Doppler is recommended yearly for AS with a mean
Doppler gradient greater than 30 mm Hg or peak instantaneous
gradient greater than 50 mm Hg and every 2 years for patients
with lesser gradients. (Level of Evidence: C)
4. Cardiac catheterization is recommended when noninvasive
measurements are inconclusive or discordant with clinical
signs. (Level of Evidence: C)
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5. Coronary angiography is recommended before aortic valve
surgery for coronary angiography in adults at risk for coronary
artery disease. (Level of Evidence: B)
6. Coronary angiography is recommended before a Ross procedure if noninvasive imaging of the coronary arteries is inadequate. (Level of Evidence: C)
7. A yearly ECG is recommended in young adults less than 30
years of age with mean Doppler gradients greater than
30 mm Hg or peak Doppler gradients greater than 50 mm Hg.
8. An ECG is recommended every other year in young adults less
than 30 years of age with mean Doppler gradients less than
30 mm Hg or peak Doppler gradients less than 50 mm Hg.
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dynamic. An early diastolic high-pitched murmur of AR is
usually loudest along the mid-left sternal border. An AR
murmur that is louder at the right sternal border indicates
aortic root dilatation.
An ECG may reveal QRS voltage of LV hypertrophy, a left
atrial abnormality pattern, and/or ST-T repolarization changes.
6.4.3. Chest X-Ray
The chest x-ray may reveal a prominent right-sided heart–
border silhouette of the ascending aorta (if dilated), calcification in the aortic valve (if calcification is present), and
a left-sided heart– border silhouette of LV hypertrophy/
enlargement.
CLASS IIa
1. In asymptomatic young adults less than 30 years of age,
exercise stress testing is reasonable to determine exercise
capability, symptoms, and blood pressure response. (Level of
Evidence: C)
2. Exercise stress testing is reasonable for patients with a mean
Doppler gradient greater than 30 mm Hg or peak Doppler
gradient greater than 50 mm Hg if the patient is interested in
athletic participation or if clinical findings differ from noninvasive measurements. (Level of Evidence: C)
3. Exercise stress testing is reasonable for the evaluation of an
asymptomatic young adult with a mean Doppler gradient
greater than 40 mm Hg or a peak Doppler gradient greater than
64 mm Hg or when the patient anticipates athletic participation or pregnancy. (Level of Evidence: C)
4. Dobutamine stress testing can be beneficial in the evaluation of a
mild aortic valve gradient in the face of low LV ejection fraction
and reduced cardiac output. (Level of Evidence: C)
5. MRI/CT can be beneficial to add important information about
the anatomy of the thoracic aorta. (Level of Evidence: C)
6. Exercise stress testing can be useful to evaluate blood pressure response or elicit exercise-induced symptoms in asymptomatic older adults with AS. (Level of Evidence: B)
CLASS IIb
6.4.6. Stress Testing
1. Magnetic resonance angiography may be beneficial in quantifying AR when other data are ambiguous or borderline. (Level of
Evidence: C)
CLASS III
1. Exercise stress testing should not be performed in symptomatic
patients with AS or those with repolarization abnormality on ECG
or systolic dysfunction on echocardiography. (Level of Evidence: C)
A delayed carotid upstroke with decreased volume is usual
with severe AS. A systolic thrill may be present in the
suprasternal notch or at the upper right sternal border.
Palpation of the LV impulse may reveal a prominent and
sustained apical impulse. A systolic ejection sound is usually
present (until the fourth decade, after which calcification may
restrict mobility of the cusps), usually loudest at the apex but
also radiating to the base. An apical crescendo-decrescendo
systolic murmur of AS radiating to the upper right sternal
border and over the carotids is characteristic.
In patients with moderate to severe AR and LV enlargement, the apical impulse is displaced laterally and is hyper-
The echocardiographic assessment should include valve anatomy and motion; aortic root anatomy and dimensions; LV
mass, size/volumes, and function (both systolic and diastolic); and the presence or absence of AR. For AS, the
continuity equation should be used in adults to calculate
aortic valve area (cm2), preferably indexed to body surface
area (cm2 per m2).
The peak instantaneous aortic valve gradient alone may
overestimate the severity of AS. The mean Doppler gradient
may be more reflective of the peak-to-peak gradient as
measured at catheterization that is classically used for clinical
decision making. Several different methods for quantification
of AR should be used, including pressure half-time, jet width,
and degree of proximal descending aortic diastolic flow
reversal (337).
Computed Tomography
MRI/magnetic resonance angiography or CT is valuable in
evaluating anatomy of the entire aorta to quantify AR in
borderline cases.
Selective use of exercise stress testing to assess blood
pressure and heart rate response, rhythm disorders, and ST-T
segment changes may be warranted. The prognostic value of
exercise-induced ST depression and T-wave inversion is age
dependent, because 80% of adults with AS will have ST
depression without prognostic significance. On the other
hand, ST-T changes in an adolescent or young adult with
exercise may be indications for intervention. The use of stress
echocardiography to assess aortic valve area and gradient, LV
ejection fraction, and LV volume response may be helpful.
The selective use of dobutamine stress echocardiographic
studies has been valuable in low-gradient AS with low LV
ejection fractions, a situation that is uncommon in adolescents
with AS or AR but may be present in older adults with
concomitant myocardial or coronary artery disease.
Diagnostic catheterization is used selectively when the clinical and echocardiography-Doppler data are incongruent or as
a prelude to catheter or surgical intervention. In many
laboratories, it is used primarily for the assessment of
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preoperative coronary anatomy in males greater than 35 years
of age or those with other risk factors for atherosclerosis.
Problems and pitfalls regarding BAV stenosis include the
following:
●
●
●
●
●
The click murmur of a BAV may be misdiagnosed as mitral
valve prolapse.
A systolic murmur may be thought to be “benign” because
an ejection click is not recognized.
To quantify the severity of valvular AS by echocardiography-Doppler, mean gradient and aortic valve area should
be used rather than relying only on peak systolic gradient,
which may overestimate the severity of stenosis. The aortic
valve area should be indexed to body surface area to correct
for different body sizes and habitus.
Progressive aortic dilatation may occur in patients with
BAV even in the absence of significant AS or AR.
In the presence of increased LV dimensions and normal
wall thickness, an increased LV mass is present. LV mass
calculations are needed and should be indexed to body
surface area (338).
6.6. Management Strategies for Left
Ventricular Outflow Tract Obstruction and
Associated Lesions
CLASS IIa
1. It is reasonable to treat systemic hypertension in patients with
AS while monitoring diastolic blood pressure to avoid reducing
coronary perfusion. (Level of Evidence: C)
2. It is reasonable to administer beta blockers in patients with
BAV and aortic root dilatation. (Level of Evidence: C)
3. It is reasonable to use long-term vasodilator therapy in patients
with AR and systemic hypertension while carefully monitoring
diastolic blood pressure to avoid reducing coronary perfusion.
CLASS IIb
1. It may be reasonable to treat patients with BAV and risk factors
for atherosclerosis with statins with the aim of slowing down
degenerative changes in the aortic valve and preventing atherosclerosis. (Level of Evidence: C)
CLASS III
1. Vasodilator therapy is not indicated for long-term therapy in AR
for the following:
a. The asymptomatic patient with only mild to moderate AR
and normal LV function. (Level of Evidence: B)
b. The asymptomatic patient with LV systolic dysfunction who
is otherwise a candidate for AVR. (Level of Evidence: B)
c. The asymptomatic patient with either LV systolic function or
mild to moderate LV diastolic dysfunction who is otherwise
a candidate for AVR. (Level of Evidence: C)
There are currently no established medical treatments
proven to alter the natural history or halt the progression of
stenosis in BAV disease (refer to Section 1.6, Recommenda-
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tions for Infective Endocarditis, for additional information).
Beta blockers may be administered to delay or prevent aortic
root dilatation or progression, but benefit has only been
validated in patients with Marfan syndrome or acute aortic
dissections. Judicious afterload reduction in patients with
hypertension to reduce systolic blood pressure and lower LV
wall tension may delay onset of LV dilatation or dysfunction
but should be balanced against the risk of reducing diastolic
coronary perfusion. There is no clear evidence that afterload
reduction decreases the volume of AR or reduces the need for
AVR (339). Multimodality molecular imaging has identified
proteolytic and osteogenic activity in early aortic valve
disease, a precursor to atherosclerotic and calcific degenerative AS (340). Thus, statins may slow the progression of
acquired or calcific degenerative AS and probably have a role
in treatment of BAV disease early in the process, before
significant calcification and AS or AR have developed (341).
Although no clinical trials have confirmed the benefits of
statins in BAV disease, it appears reasonable to treat those
patients who have risk factors for atherosclerosis.
6.6.2. Catheter and Surgical Intervention
In adults with AS, intervention for significant disease usually
involves AVR or Ross repair; however, selected adolescents
and young adults may benefit from percutaneous balloon
valvuloplasty. This technique should be performed at centers
with appropriate experience and expertise (112).
6.6.2.1. Recommendations for Catheter Interventions for
Adults With Valvular Aortic Stenosis
CLASS I
1. In young adults and others without significantly calcified aortic
valves and no AR, aortic balloon valvotomy is indicated in the
following patients:
a. Those with symptoms of angina, syncope, dyspnea on exertion, and peak-to-peak gradients at catheterization greater
than 50 mm Hg. (Level of Evidence: C)
b. Asymptomatic adolescents or young adults who demonstrate ST or T-wave abnormalities in the left precordial leads
on ECG at rest or with exercise and a peak-to-peak catheter
gradient greater than 60 mm Hg. (Level of Evidence: C)
CLASS IIa
1. Aortic balloon valvotomy is reasonable in the asymptomatic
adolescent or young adult with AS and a peak-to-peak gradient
on catheterization greater than 50 mm Hg when the patient is
interested in playing competitive sports or becoming pregnant.
CLASS IIb
1. Aortic balloon valvotomy may be considered as a bridge to surgery
in hemodynamically unstable adults with AS, adults at high risk
for AVR, or when AVR cannot be performed secondary to significant comorbidities. (Level of Evidence: C)
CLASS III
1. In older adults, aortic balloon valvotomy is not recommended
as an alternative to AVR, although certain younger patients
may be an exception and should be referred to a center with
experience in aortic balloon valvuloplasties. (Level of Evidence: B)
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2. In asymptomatic adolescents and young adults, aortic balloon
valvotomy should not be performed with a peak-to-peak gradient less than 40 mm Hg without symptoms or ECG changes.
When valvular AS is secondary to bicuspid commissural
fusion, especially in young adults, the potential exists for
successful balloon dilation with gradient reduction and extended freedom from reintervention (320). Increasing calcification, with concomitantly increasing transvalvular gradient
with increasing patient age, limits results in older adults, in
whom AVR is the intervention of choice (320). Criteria for
intervention vary, with typical indications including a valve
area less than or equal to 0.45 cm2 per m2 (if not indexed, 0.8
cm2 for an average-sized adult with a height of 1.7 m2),
especially in the setting of symptoms of dyspnea, angina, or
syncope or with worsening ventricular function. Balloon
valvuloplasty may be considered in younger patients in whom
there is a need to have augmented cardiac output, such as
those with a desire to become pregnant or to participate in
vigorous sports. When balloon valvuloplasty is indicated,
patients should be referred to a center experienced in the
procedure.
6.6.2.2. Recommendations for Aortic Valve
Repair/Replacement and Aortic Root Replacement
CLASS I
1. Aortic valvuloplasty, AVR, or Ross repair is indicated in patients with severe AS or chronic severe AR while they undergo
coronary artery bypass grafting, surgery on the aorta, or
surgery on other heart valves. (Level of Evidence: C)
2. AVR is indicated for patients with severe AS and LV dysfunction
(LV ejection fraction less than 50%). (Level of Evidence: C)
3. AVR is indicated in adolescents or young adults with severe AR
who have:
a. Development of symptoms. (Level of Evidence: C)
b. Development of persistent LV dysfunction (LV ejection fraction less than 50%) or progressive LV dilatation (LV end-diastolic diameter 4 standard deviations above normal).
4. Surgery to repair or replace the ascending aorta in a patient
with a BAV is recommended when the ascending aorta diameter is 5.0 cm or more or when there is progressive dilatation at
a rate greater than or equal to 5 mm per year. (112) (Level of
Evidence: B)
CLASS IIa
1. AVR is reasonable for asymptomatic patients with severe AR
and normal systolic function (ejection fraction greater than
50%) but with severe LV dilatation (LV end-diastolic diameter
greater than 75 mm or end-systolic dimension greater than
55 mm*). (Level of Evidence: B)
2. Surgical aortic valve repair or replacement is reasonable in
patients with moderate AS undergoing coronary artery bypass
grafting or other cardiac or aortic root surgery. (Level of
Evidence: B)
*Consider lower threshold values for patients of small stature of either
gender.
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CLASS IIb
1. AVR may be considered for asymptomatic patients with any of
the following indications:
a. Severe AS and abnormal response to exercise. (Level of
Evidence: C)
b. Evidence of rapid progression of AS or AR. (Level of
Evidence: C)
c. Mild AS while undergoing coronary artery bypass grafting or
other cardiac surgery and evidence of a calcific aortic valve.
d. Extremely severe AS (aortic valve area less than 0.6 cm
and/or mean Doppler systolic AV gradient greater than
60 mm Hg) in an otherwise good operative candidate. (Level
of Evidence: C)
e. Moderate AR undergoing coronary artery bypass grafting
or other cardiac surgery. (Level of Evidence: C)
f. Severe AR with rapidly progressive LV dilation when the
degree of LV dilation exceeds an end-diastolic dimension of
70 mm or end-systolic dimension of 50 mm, with declining
exercise tolerance, or with abnormal hemodynamic responses to exercise. (Level of Evidence: C)
2. Surgical repair may be considered in adults with AS or AR and
concomitant ascending aortic dilatation (ascending aorta diameter greater than 4.5 cm) coexisting with AS or AR. (Level
of Evidence: B)
3. Early surgical repair may be considered in adults with the
following indications:
a. AS and a progressive increase in ascending aortic size.
b. Mild AR if valve-sparing aortic root replacement is being
considered. (Level of Evidence: C)
CLASS III
1. AVR is not useful for prevention of sudden death in asymptomatic adults with AS who have none of the findings listed under
the Class IIa/IIb indications. (Level of Evidence: B)
2. AVR is not indicated in asymptomatic patients with AR who
have normal LV size and function. (Level of Evidence: B)
In adults, surgical AVR or Ross procedure is the primary
intervention for aortic valve disease. Complications related to
Shones syndrome and multiple levels of obstruction warrant
referral to a surgeon with experience in ACHD. Congenital
heart surgeons should perform complex operations that involve LVOT obstruction (eg, modified Konno or Konno
procedure), and management of these patients should be in a
tertiary center with experienced ACHD medical and surgical
personnel.
In BAV disease, there is no consensus regarding the
specific diameter of the ascending aorta for which replacement is indicated, but greater than or equal to 5 cm has been
suggested by some (112). Whether aortic root replacement or
wrapping is optimal in such patients is a matter of debate;
results of AVR in CHD have an acceptable medium-term
result (342). There has been concern about the stability of
neoaortic root sizes with the Ross procedure for BAV with a
dilated aortic root (322), in part because of data on the
free-standing aortic root technique, after which progressive
root enlargement and neo-AR have been noted (340). SimonKupilik et al (343) reported that by 7 years after the Ross
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procedure, only 45% of patients were free of neoaortic
autograft dilatation, but 90% had an increase in autograft root
dimensions greater than 25%. However, dilatation did not
always necessitate reoperation for aneurysm formation or
increasing AR (343), and the use of a subcoronary Ross
procedure results in stable root dimensions (344,345).
6.7. Recommendations for Key Issues to
Evaluate and Follow-Up
CLASS I
1. Lifelong cardiology follow-up is recommended for all patients
with aortic valve disease (AS or AR) (operated or unoperated;
refer to Section 6.4, Recommendations for Evaluation of the
Unoperated Patient). (Level of Evidence: A)
2. Serial imaging assessment of aortic root anatomy is recommended for all patients with BAV, regardless of severity. The
frequency of imaging would depend on the size of the aorta at
initial assessment: if less than 40 mm, it should be reimaged
approximately every 2 years; if greater than or equal to 40 mm,
it should be reimaged yearly or more often as progression of
root dilation warrants or whenever there is a change in clinical
symptoms or findings. (Level of Evidence: B)
3. Prepregnancy counseling is recommended for women with AS
who are contemplating pregnancy. (Level of Evidence: B)
4. Patient referral to a pediatric cardiologist experienced in fetal
echocardiography is indicated in the second trimester of pregnancy to search for cardiac defects in the fetus. (Level of
Evidence: C)
5. Women with BAV and ascending aorta diameter greater than 4.5
cm should be counseled about the high risks of pregnancy. (Level
of Evidence: C)
6. Patients with moderate to severe AS should be counseled
against participation in competitive athletics and strenuous
isometric exercise. (Level of Evidence: B)
7. Echocardiographic screening for the presence of BAV is recommended for first-degree relatives of patients with BAV.
Progressive or recurrent AS, AR, or aortic enlargement
may occur in the presence of a BAV. Patients with or without
intervention should be followed up at least yearly for symptoms and findings of progressive AS/AR ventricular dysfunction and arrhythmia. This includes resting and stress ECGs to
look for ischemic changes or arrhythmia; echocardiographyDoppler to monitor LV size/volume and systolic and diastolic
function, aortic valve function, and aortic root size and
anatomy; and 24-hour ambulatory ECG monitoring.
With or without intervention, both AS and AR are progressive lesions that may ultimately require surgical intervention.
Prosthetic valve complications include endocarditis, thrombosis, periprosthetic regurgitation with or without hemolysis,
and obstruction related to pannus in growth. Patients who
undergo the Ross procedure (placement of the native pulmonary valve in the aortic position and pulmonary or aortic
homograft replacement of the pulmonary valve) are at risk of
developing autograft dilatation with progressive neo-AR,
right-sided pulmonary homograft obstruction and/or regurgitation, and occasionally myocardial ischemia and/or infarct
related to proximal coronary artery obstruction or kinking.
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Patients who undergo the Bentall procedure (aortic root
replacement with a composite valve and graft with coronary
reimplantation) are also at risk for proximal coronary
obstruction.
Congenital AS with a long-standing significant gradient
can be associated with ventricular arrhythmias in adulthood,
including the small possibility of sudden cardiac death (346).
Patients should be monitored carefully for symptoms and
should have regular ECGs, plus periodic ambulatory rhythm
monitoring, to assist in early detection of arrhythmias
(104,347).
6.7.1. Reproduction
Most pregnancies with congenital AS are uncomplicated, but
in those with severe AS, morbidity is higher, although deaths
are still rare (348,349). Prepregnancy counseling is recommended. Referral to a fetal cardiologist is indicated in the
second trimester because there is an increased risk of transmitting CHD to offspring. Delivery in all but the mildest of
cases may be best accomplished at centers experienced with
high-risk heart disease. Vaginal delivery is generally preferable to cesarean delivery except in the presence of obstetric
contraindications or severe cardiac situations, such as aortic
aneurysm, dissection, or critical AS, or in women who are
undergoing anticoagulation (because of the risks of intracranial bleeding in the newborn). Delivery may be performed
under controlled circumstances at approximately 38 weeks
(provided fetal lung maturity is deemed sufficient) with
appropriate monitoring of maternal heart rate, blood pressure,
and fetal monitoring. Even though the 2007 AHA Scientific
Statement on Prevention of Infective Endocarditis does not
recommend routine prophylaxis for vaginal delivery or cesarean section, many obstetricians administer antibiotics at
the time of rupture of membranes for women with aortic
valve disease (74) (refer to Section 1.6, Recommendations for
Infective Endocarditis, for additional information). Prepregnancy or prenatal evaluation and counseling in women with
congenital aortic valve disease is essential to explore options
and manage risks. The role of balloon valvuloplasty in the
palliation of symptomatic pregnant women with AS requires
further study, but it may be applied successfully if symptoms
are refractory to medical therapy (348,350). There is no
evidence that pregnancy accelerates progression of congenital
AS or AR. In some cases, the drop in systemic vascular
resistance that accompanies pregnancy may reduce the regurgitant fraction in AR (351).
6.7.2. Activity/Exercise
Patients with moderate to severe AS who participate in
competitive athletics risk sudden cardiac death, likely from
arrhythmias; therefore, they should be strongly counseled
against competitive athletics and strenuous isometric exercise. Patients with aortopathy should be similarly counseled
about the risks of chest injury. Exercise and athletics have
been addressed in the report of Task Force 2 on CHD of the
36th Bethesda Conference (49).
6.8. Isolated Subaortic Stenosis
6.8.1. Definition
SubAS refers to a discrete fibrous ring or fibromuscular
narrowing and is distinct from genetic hypertrophic cardio-
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myopathy with dynamic LVOT obstruction. Often, the subaortic fibrous ring may extend onto the anterior mitral leaflet.
On occasion, accessory mitral tissue or anomalous chords
may cause SubAS. SubAS is usually a solitary congenital
defect but may be superimposed on other congenital heart
defects (eg, VSD) or acquired under certain circumstances
(eg, after VSD patching). Although the obstruction is usually
fixed, a secondary dynamic component may develop due to
myocardial hypertrophy and dynamic LV ejection.
The prevalence of discrete SubAS among ACHD patients
has been reported to be 6.5% (352), with a male preponderance of 2:1. In some cases, such as Shones syndrome, SubAS
may be familial.
SubAS may occur as an associated defect with VSDs, AVSD,
or conotruncal anomalies and may develop after patch closure
of a perimembranous or malaligned VSD or AVSD (353).
6.8.3. Clinical Course With/Without Previous
Intervention
The course of SubAS is often progressive. The unrepaired
history includes progressive aortic valve damage, ventricular
dysfunction, IE, and sudden cardiac death. The dominant
feature may be obstruction or AR (352,354,355). AR occurs
in more than 50% of those with SubAS. Once the peak
Doppler gradient across the SubAS is more than 30 mm Hg,
and if the membrane is immediately adjacent to the aortic
valve or there is extension of the membrane onto the mitral
valve, LVOT obstruction is likely to be progressive (354).
Once the peak instantaneous Doppler LVOT gradient reaches
50 mm Hg or more, there is increased risk for moderate or
severe AR (354). Patients are at risk for endocarditis, which
will contribute to worsening AR (356).
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as to assess LV hypertrophy and function (systolic and
diastolic) in patients suspected of having SubAS. TEE may
add valuable anatomic detail, both preoperatively and intraoperatively. Three-dimensional echocardiography may be
particularly helpful in demonstrating complex LV outflow
anatomy.
6.8.5. Diagnostic Cardiac Catheterization
Noninvasive imaging is usually sufficient for evaluation and
monitoring of patients with SubAS. Cardiac catheterization
may be indicated when SubAS is associated with other
lesions. Accurate measurement of the subvalvular gradient
necessitates the use of end-hole or micromanometer-tipped
catheters. LV angiography is often unreliable for diagnosis of
a discrete subaortic membrane, although carefully angulated
views may reveal the membrane.
6.8.6. Problems and Pitfalls
The findings of a discrete fibrous subaortic ring may be subtle
on TTE, unless there are good acoustical windows that allow
transducer positions perpendicular to the membrane and the
LVOT obstruction is examined carefully with color flow
Doppler. The degree of SubAS may be underestimated or
overestimated in the presence of a VSD, depending on
whether the VSD is proximal or distal to the subaortic
obstruction.
6.8.7. Management Strategies
6.8.7.1. Medical Therapy
There is no specific medical therapy for SubAS, except
endocarditis prophylaxis when there is a prior history of
endocarditis (refer to Section 1.6, Recommendations for
Infective Endocarditis, for additional information).
6.8.7.2. Recommendations for Surgical Intervention
CLASS I
6.8.4.1. Clinical Examination
The murmur of SubAS is crescendo-decrescendo and is
present at the apex and over the left parasternal precordium.
Transmission into the carotids is inconsistent. In contrast to
valvular AS, no ejection click is present. In some patients, a
thrill may be present. A high-frequency early diastolic murmur of AR may be heard along the left sternal border.
1. Surgical intervention is recommended for patients with SubAS
and a peak instantaneous gradient of 50 mm Hg or a mean
gradient of 30 mm Hg on echocardiography-Doppler. (Level of
Evidence: C)
2. Surgical intervention is recommended for SubAS with less than
a 50-mm Hg peak or less than a 30-mm Hg mean gradient and
progressive AR and an LV dimension at end-systolic diameter of
50 mm or more or LV ejection fraction less than 55%. (Level of
Evidence: C)
6.8.4.2. Electrocardiogram
The ECG may be normal if there is no significant AS or AR
or may show varying degrees of LV hypertrophy and secondary repolarization abnormalities.
6.8.4.3. Chest X-Ray
The chest x-ray is usually normal unless the development of
significant AR results in LV dilatation and/or the ascending
aorta.
6.8.4.4. Echocardiography
Transthoracic 2-dimensional echocardiography-Doppler is
the initial diagnostic method of choice to precisely characterize LV outflow anatomy, severity of subaortic gradient,
associated aortic valve abnormality, degree of AR, diameter
of the ascending aorta, and mitral valve involvement, as well
CLASS IIb
1. Surgical resection may be considered in patients with a mean
gradient of 30 mm Hg, but careful follow-up is required to
detect progression of stenosis or AR. (Level of Evidence: C)
2. Surgical resection may be considered for patients with less
than a 50-mm Hg peak gradient or less than a 30-mm Hg mean
gradient in the following situations:
a. When LV hypertrophy is present. (Level of Evidence: C)
b. When pregnancy is being planned. (Level of Evidence: C)
c. When the patient plans to engage in strenuous/competitive
sports. (Level of Evidence: C)
CLASS III
1. Surgical intervention is not recommended to prevent AR for
patients with SubAS if the patient has trivial LVOT obstruction
or trivial to mild AR. (Level of Evidence: C)
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Surgical intervention should be recommended for patients
with SubAS when the peak instantaneous echocardiographic
gradient is greater than 50 mm Hg, the mean gradient is
greater than 30 mm Hg, or catheter measurement of the
resting peak-to-peak gradient is greater than 50 mm Hg.
Patients with lesser degrees of obstruction may be considered
for surgery in the presence of LV systolic dysfunction or
significant aortic valve regurgitation or if the patient desires
to become pregnant or to participate in active sports.
Patients with peak gradients less than 50 mm Hg and
symptoms of breathlessness or fatigability should be investigated with exercise Doppler to determine whether the gradient increases with exertion. The presence of LV systolic
dysfunction or a VSD proximal to the SubAS may result in
underestimation of obstruction. The value of surgical resection for the sole purpose of preventing progressive AR in
patients without other criteria for surgical intervention has not
been determined and is an issue about which there is no clear
consensus.
Surgical repair of discrete SubAS usually involves circumferential resection of the fibrous ring and some degree of
resection of the muscular base along the left septal surface.
Potential operative complications include injury to the aortic
or mitral valves, complete heart block, or creation of a VSD.
Patients with associated AR often undergo valve repair at the
time of subaortic resection. Fibromuscular or tunnel-type
SubAS is more difficult to palliate surgically and usually
involves a more aggressive septal resection and sometimes
mitral valve replacement. Patients with SubAS due to severe
long-segment LVOT obstruction may require a Konno procedure, which involves an extensive patch augmentation of
the LV outflow area to the aortic annulus.
Postoperative complications may include damage to the
aortic or mitral valve, heart block, iatrogenic VSD, and IE.
SubAS may recur after surgical repair; repair of SubAS in
children does not necessarily prevent AR development in
adults (352,357). However, data exist to suggest that surgical
resection of fixed SubAS before the development of a more
than 40-mm Hg LVOT gradient may prevent reoperation and
secondary progressive aortic valve disease (358). Although
catheter palliation has been performed in some centers on an
experimental basis, its efficacy has not been demonstrated (359).
6.8.8. Recommendations for Key Issues to Evaluate
and Follow-Up
CLASS I
1. Lifelong cardiology follow-up, including evaluation by and/or
consultation with a cardiologist with expertise in ACHD, is
recommended for all patients with SubAS, repaired or not.
2. The unoperated asymptomatic adult with stable LVOT obstruction due to SubAS and a mean gradient less than 30 mm Hg
without LV hypertrophy or significant AR should be monitored
at yearly intervals for increasing obstruction, the development
or progression of AR, and the evaluation of systolic and
diastolic LV function. (Level of Evidence: B)
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CLASS IIa
1. Stress testing to determine exercise capability, symptoms,
ECG changes or arrhythmias, or increase in LVOT gradient is
reasonable in the presence of otherwise equivocal indications
for intervention. (Level of Evidence: C)
Progressive and/or recurrent obstruction and progressive
AR may occur in patients with or without intervention.
Recurrent obstruction is frequent after resection of SubAS
and occurs at a rate of approximately 20% over 10 years. In
addition, AR may occur despite resection of the subaortic
membrane.
6.8.9. Special Issues
6.8.9.1. Pregnancy
Refer to Section 6.7.1, Reproduction.
6.8.9.2. Exercise and Athletics
Refer to Section 6.7.2, Activity/Exercise.
6.9. Supravalvular Aortic Stenosis
6.9.1. Definition
SupraAS is a fixed obstruction that arises from just above the
sinus of Valsalva and extends a variable distance along the
aorta. The origin of the coronary arteries is usually proximal
to the obstruction, which subjects them to high systolic
pressure and limited diastolic flow. There may be partial or
complete ostial obstruction of the coronary arteries, ectasia,
or aneurysm of the coronary arteries (360). Pathological
specimens with diffuse or focal intimal and medial fibrosis,
hyperplasia, dysplasia, adventitial fibroelastosis, and occasional intramedial dissection have been reported in children
and more commonly in adults (361–363). This may produce
significant coronary insufficiency and early onset of coronary
artery disease in adult life.
SupraAS is commonly seen in Williams syndrome and can be
associated with hypoplasia of the entire aorta, renal artery
stenosis, stenoses of other major aortic branches, and longsegment peripheral pulmonary artery stenosis. Williams syndrome, an autosomal dominant disorder due to an elastin gene
mutation, is associated with abnormal (elfin) facies, cognitive
and behavioral disorders, and joint abnormalities. Familial
non-Williams SubAS is also associated with branch pulmonary artery stenosis and hypoplasia, as well as hypoplastic
descending aorta and renal artery stenosis.
6.9.3. Clinical Course (Unrepaired)
Most patients with SupraAS will be followed up from
childhood and may present in adult life with symptoms due to
significant outflow obstruction, systemic hypertension, or
ischemia. Clinical presentation with ischemic symptomatology referable to insufficient coronary artery flow has been
reported due to either anatomic obstruction or myocardial
hypertrophy that limits nonepicardial coronary flow (364).
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Unoperated Patient
CLASS I
1. TTE and/or TEE with Doppler and either MRI or CT should be
performed to assess the anatomy of the LVOT, the ascending
aorta, coronary artery anatomy and flow, and main and branch
pulmonary artery anatomy and flow. (Level of Evidence: C)
2. Assessment of anatomy and flow in the proximal renal arteries
is recommended in ACHD patients with SupraAS. (Level of
Evidence: C)
3. Assessment of systolic and diastolic ventricular function is
recommended in ACHD patients with SupraAS. (Level of Evidence: C)
4. Assessment of aortic and mitral valve anatomy and function
is recommended in ACHD patients with SupraAS. (Level of
Evidence: C)
5. Adults with a history or presence of SupraAS should be
screened periodically for myocardial ischemia. (Level of Evidence: C)
CLASS IIa
1. Exercise testing, dobutamine stress testing, positron emission
tomography, or stress sestamibi with adenosine studies can be
useful to evaluate the adequacy of myocardial perfusion. (Level of
Evidence: C)
Preferential flow (Coanda effect) up the rightward portion of
the ascending aorta into the right brachiocephalic artery may
produce discordant amplitude of arterial pulsations in the
carotids and upper extremities. There may also be a differential blood pressure between the right and left arm. A
systolic thrill in the suprasternal notch is common. There
may be a dynamic LV apical impulse. The second heart
sound may be narrowly or paradoxically split. A fourth
heart sound may be present over the LV apical thrust. An
ejection click is absent. There is a crescendo-decrescendo
murmur at the cardiac base, with radiation to the right side of
the neck. Careful auscultation over the back and flank may
reveal murmurs of peripheral pulmonary artery stenosis or
renal artery stenosis. Hypertension and an abdominal bruit
may signify renal artery stenosis.
The ECG may reveal LV hypertrophy and secondary ST-T–
wave abnormalities versus ischemic changes, depending on
the severity of LVOT obstruction and the degree of coronary
involvement. ST-T–wave changes may not regress after
surgery, even if the gradient has been relieved; therefore, it is
important to determine whether these postoperative abnormalities are recent versus chronic.
6.10.3. Chest X-Ray
The chest x-ray is often normal but may reveal LV hypertrophy or asymmetry of the aortic knob.
6.10.4. Imaging
TTE and TEE demonstrate the diameter and anatomy of the
aortic sinus, sinotubular ridge, and proximal ascending aorta,
the origins of the coronary arteries, the systolic gradient
e51
across the SupraAS obstruction, and the degree of LV
hypertrophy. MRI/CT is required to more precisely define the
anatomy of the aorta and branches, as well as the pulmonary
arteries. As with any long-segment obstruction, assessment of
the gradient can be challenging and may require cardiac
catheterization for complete assessment of hemodynamic
severity of the stenosis. Patients with Williams syndrome
should have imaging of the entire aorta, including the renal
arteries, because of the association with arterial stenosis at
any level.
Stress testing may be helpful to assess coronary involvement
and LV compensation.
6.10.6. Myocardial Perfusion Imaging
Noninvasive screening for coronary insufficiency may be
helpful if there are symptoms or ECG findings of ischemia or
if there is significant coronary involvement on imaging
studies. Patients with limited cognitive function may be
unable to perform maximal stress testing but pharmacological
stress (adenosine or dobutamine) nuclear imaging with
positron emission tomography, single photon emission computed tomography, or MRI may be performed.
Diagnostic catheterization may help to delineate anatomy and
accurately measure gradients. Selective coronary angiography should be approached with caution after thorough noninvasive and angiographic examination of the aortic root,
because coronary ostial stenosis is a frequent occurrence in
this population. Intravascular ultrasonography may provide
definition of coronary artery anatomy and define the nature
and extent of the diseased vessel before consideration of
repair.
6.11. Management Strategies for
Supravalvular Left Ventricular Outflow Tract
and Surgical Therapy
CLASS I
1. Operative intervention should be performed for patients with
supravalvular LVOT obstruction (discrete or diffuse) with symptoms (ie, angina, dyspnea, or syncope) and/or mean gradient
greater than 50 mm Hg or peak instantaneous gradient by
Doppler echocardiography greater than 70 mm Hg. (Level of
Evidence: B)
2. Surgical repair is recommended for adults with lesser degrees
of supravalvular LVOT obstruction and the following indications:
a. Symptoms (ie, angina, dyspnea, or syncope). (Level of
Evidence: B)
b. LV hypertrophy. (Level of Evidence: C)
c. Desire for greater degrees of exercise or a planned pregnancy. (Level of Evidence: C)
d. LV systolic dysfunction. (Level of Evidence: C)
3. Interventions for coronary artery obstruction in patients with
SupraAS should be performed in ACHD centers with demonstrated
expertise in the interventional management of such patients.
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Surgical relief of SupraAS is accomplished with the use of
complex patching of the aorta, with reconstruction of the
coronary ostia or bypass grafting, depending on the anatomy
of the lesion. Surgical results with reconstruction of the
coronary ostium or bypass grafting, depending on anatomy of
the lesions noted, have been described without long-term
follow-up (365). Branch pulmonary artery stenosis may be
addressed during the same surgical procedure. There are no
long-term follow-up data on adults after surgery for SupraAS.
Catheter-based techniques have not been described for this
lesion.
6.11.2. Recommendations for Key Issues to Evaluate
and Follow-Up
CLASS I
1. Both operated and unoperated patients with SupraAS should
be followed up annually at a regional ACHD center. (Level of
Evidence: C)
2. Long-term psychosocial assessment and oversight, including
the need for legal guardianship, are recommended for patients
with Williams syndrome. (Level of Evidence: C)
Repair of SupraAS results in low early and late mortality
and low incidence of recurrent obstruction. The durability of
patch material requires long-term observation for assessment
of aneurysm formation. Both operated and unoperated patients with SupraAS require lifelong annual follow-up to
evaluate the degree of obstruction and LV compensation, the
development of coronary insufficiency or systemic hypertension, and the development of mitral regurgitation.
Patients with Williams syndrome require long-term psychosocial follow-up to assess competency for self-care and
recommend appropriate measures. This is particularly important because these patients have verbal and social skills that
result in an overestimation of their executive functioning.
6.11.3. Special Issues
In SupraAS, abnormal systolic forces on the proximal coronary arteries and ostia may accelerate coronary artery disease,
and impaired diastolic coronary filling due to ostial obstruction may cause or augment myocardial ischemia. Care must
be taken to avoid circumstances that decrease diastolic
pressure so that critical coronary perfusion is maintained.
Refer to Section 6.7.2, Activity/Exercise.
6.11.5. Recommendations for Reproduction
CLASS I
1. SupraAS, whether associated with Williams syndrome or nonsyndromic, has a strong likelihood of being an inherited disorder. Undetected family members may be at risk for hypertension, coronary disease, or stroke; therefore, all available
relatives should be screened. (Level of Evidence: C)
2. Patients with SupraAS and significant obstruction, coronary
involvement, or aortic disease should be counseled against
pregnancy. (Level of Evidence: C)
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6.12. Aortic Coarctation
6.12.1. Definition
Discrete coarctation of the aorta consists of short-segment
narrowing in the region of the ligamentum arteriosum adjacent to the origin of the left subclavian artery. In some cases,
there is also narrowing of the aortic arch or isthmus. Extensive collateral vessels may arise proximal to the obstruction.
The presence of abundant collaterals may reduce the gradient
across the coarctation and mask the severity of the obstruction. An associated intrinsic abnormality in the aortic wall
predisposes to dissection or rupture in the ascending aorta or
the area of the coarctation. The adult who had surgical repair
of coarctation of the aorta as an infant is more likely to have
associated cardiac lesions with BAV, SubAS, VSD, and
varying degrees of arch hypoplasia. Residual hemodynamic
problems from any of these defects may complicate the
clinical course and may require more detailed evaluation and
follow-up.
Associated lesions include BAV, SubAS, mitral valve abnormalities such as parachute mitral stenosis, VSD, and circle of
Willis cerebral artery aneurysm.
6.12.3. Recommendations for Clinical
Evaluation and Follow-Up
CLASS I
1. Every patient with systemic arterial hypertension should have
the brachial and femoral pulses palpated simultaneously to
assess timing and amplitude evaluation to search for the
“brachial-femoral delay” of significant aortic coarctation. Supine bilateral arm (brachial artery) blood pressures and prone
right or left supine leg (popliteal artery) blood pressures should
be measured to search for differential pressure. (Level of
Evidence: C)
2. Initial imaging and hemodynamic evaluation by TTE, including
suprasternal notch acoustic windows, is useful in suspected
aortic coarctation. (Level of Evidence: B)
3. Every patient with coarctation (repaired or not) should have at
least 1 cardiovascular MRI or CT scan for complete evaluation
of the thoracic aorta and intracranial vessels. (Level of Evidence: B)
Aortic coarctation may be recognized in the adult, usually
because of systemic arterial hypertension and discrepant
upper- and lower-extremity pulses. Patients may complain of
exertional headaches, leg fatigue, or claudication. Occasionally, the patient may come to medical attention because of a
murmur due to BAV or VSD.
Unoperated survival averages 35 years of age, with 75%
mortality by 46 years of age. Systemic hypertension, accelerated coronary heart disease, stroke, aortic dissection, and
congestive heart failure are common complications in patients who have not had surgery or who are operated on in
later childhood or adult life. An associated BAV with varying
degrees of AS or AR may be present. Death may be related to
congestive heart failure, aortic rupture/dissection, endocardi-
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tis/endarteritis, intracerebral hemorrhage, or myocardial
infarction.
Unrepaired Patients
Hypertension is present in the right arm, relative to the lower
extremities, unless an anomalous origin of the right subclavian artery is present. The left subclavian artery may be close
to the aortic narrowing and thus may or may not be hypertensive. The carotid pulsations may be hyperdynamic. There
is a pulse delay between the right arm and the femoral or
popliteal arteries. A murmur or bruit may be heard in the left
interscapular position, either due to the coarctation or to
collaterals. If collateral vessels are present, continuous murmurs may be present over the parasternal areas (mammary
arteries) and around the left scapula; occasionally, periscapular collaterals can be palpated. Auscultation should be directed toward detecting a parasternal and apical systolic
ejection sound suggestive of an associated BAV with or
without a systolic crescendo-decrescendo murmur of LVOT
obstruction or an early diastolic decrescendo murmur of AR.
The ECG may demonstrate LV hypertrophy and secondary
ST-T–wave abnormalities but occasionally will show RV
conduction delay.
6.13.2. Chest X-Ray
An anterior-posterior projection of the chest x-ray may show
a prominent curvilinear shadow along the mid-right sternal
border that represents a dilated ascending aorta. An indentation at the coarctation site may produce a “3 sign” adjacent to
the area beneath the transverse arch and above the main
pulmonary artery silhouette. Notching on the underside of the
ribs (usually 3 to 9) from collateral vessels may be apparent.
6.13.3. Echocardiography and Doppler
The coarctation may be demonstrated on a suprasternal notch
view of the aortic arch and proximal descending aorta, which,
when combined with color flow imaging and continuouswave spectral Doppler interrogation, may demonstrate turbulence in the proximal descending aorta and show the characteristic flow profile of forward diastolic flow. An abnormal
Doppler flow pattern may also be noted in the abdominal
aorta, ie, decreased pulsatility and absence of early diastolic
flow reversal. Abnormal flow in collateral vessels can be
detected by color flow and pulse Doppler. It is also important
to measure the dimensions of the aortic annulus, aortic
sinuses, sinotubular ridge, and ascending aorta. The anatomy
of the aortic valve should be determined, as well as LV size,
mass, and function. Careful investigation should rule out
associated lesions such as VSD, SubAS, and mitral valve
deformity.
In addition to the usual evaluation of exercise capacity and
symptoms, rhythm, and ECG response, stress testing goals
include assessment of the systemic arterial blood pressure
response at rest and with exercise, which is a surrogate
evaluation of the coarctation gradient. Stress-echocardiogra-
e53
phy–Doppler is valuable and is targeted at obtaining the rest
and exercise suprasternal notch continuous-wave Doppler
coarctation gradient, including the diastolic profile. Arm-leg
blood pressure and echocardiography-Doppler gradient assessment during exercise may be problematic and better
assessed with supine ergometer stress testing or dobutamine
stress testing.
6.13.5. Magnetic Resonance Imaging/Magnetic
Resonance Angiography or Computed Tomography
With 3-Dimensional Reconstruction
MRI or CT angiography with 3-dimensional reconstruction
identifies the precise location and anatomy of the coarctation
and entire aorta, as well as collateral vessels (366). Magnetic
resonance angiography to search for aneurysms of the intracranial arteries is appropriate. Magnetic resonance angiography may also be useful to quantify collateral flow.
6.13.6. Catheterization Hemodynamics/Angiography
Diagnostic cardiac catheterization is mainly justified when
associated coronary artery disease is suspected and surgery is
planned; however, MRI/magnetic resonance angiography or
CT remains the preferred means of imaging the area of
coarctation. Cardiac catheterization is also indicated if
catheter-based intervention (angioplasty or stent) is to be
performed, and generally, this should be performed only in
centers with interventional capability.
In the presence of sizable collaterals, femoral pulses may be
less diminished, and catheter-based and Doppler systolic
gradients may not capture the degree of obstruction of aortic
coarctation and hence may be misleading. Repair of coarctation late in childhood or in adult life often does not prevent
persistence or late recurrence of systemic hypertension.
Hypertension can also reappear several years after coarctation
repair.
6.14. Management Strategies for Coarctation
of the Aorta
Hypertension should be controlled by beta blockers, ACE
inhibitors, or angiotensin-receptor blockers as first-line medications. The choice of beta blockers or vasodilators may be
influenced in part by the aortic root size, the presence of AR,
or both.
and Surgical Treatment of Coarctation of the
Aorta in Adults
CLASS I
1. Intervention for coarctation is recommended in the following
circumstances:
a. Peak-to-peak coarctation gradient greater than or equal to
20 mm Hg. (Level of Evidence: C)
b. Peak-to-peak coarctation gradient less than 20 mm Hg in the
presence of anatomic imaging evidence of significant coarctation with radiological evidence of significant collateral flow.
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2. Choice of percutaneous catheter intervention versus surgical
repair of native discrete coarctation should be determined by
consultation with a team of ACHD cardiologists, interventionalists, and surgeons at an ACHD center. (Level of Evidence: C)
3. Percutaneous catheter intervention is indicated for recurrent,
discrete coarctation and a peak-to-peak gradient of at least
20 mm Hg. (Level of Evidence: B)
operations for previously repaired coarctation and the following
indications:)
a. Long recoarctation segment. (Level of Evidence: B)
b. Concomitant hypoplasia of the aortic arch. (Level of Evidence: B)
CLASS IIb
1. Stent placement for long-segment coarctation may be considered, but the usefulness is not well established, and the
long-term efficacy and safety are unknown. (Level of Evidence: C)
The appropriate type of treatment for native coarctation of
the aorta in adults remains somewhat controversial. In particular, for women who are or will be of childbearing age
after repair, there is a concern about the tissue integrity of the
paracoarctation region, particularly during pregnancy. As
such, one may select direct surgical repair with excision of
the paracoarctation tissue for those individuals. For recurrent
aortic coarctation (coarctation after surgical repair), the prevailing opinion now is that catheter-based intervention (balloon or stent) is generally safe and the preferred alternative to
surgery in the absence of confounding features (eg, aneurysm
or pseudoaneurysm formation, or significant coarctation that
affects the adjoining arch arterial branches).
McCrindle et al reported the recurrence rate after balloon
angioplasty of primary coarctation in adults at approximately
7%, with a further 7% of patients having a suboptimal
primary outcome (367). For localized discrete narrowing,
balloon angioplasty is an acceptable alternative to surgical
repair as a primary intervention but is still considered less
suitable for long-segment or tortuous forms of coarctation.
In the majority of circumstances, discrete recoarctation is
managed with balloon dilation with or without stent placement. In many ACHD centers, surgery is reserved for patients
who are unsuitable for percutaneous treatment or who have
undergone unsuccessful percutaneous treatment.
Reoperation is performed via midline sternotomy or posterolateral thoracotomy, depending on the precise form of
repair required for a given individual and whether associated
lesions (BAV disease, dilated aortic root) need to be addressed simultaneously. The use of partial or full cardiopulmonary bypass may be required to prevent paralytic complications. Intervention, whether via a catheter approach or
surgery, should be done in centers with experience in the
medical and surgical care of ACHD patients.
Early mortality is usually less than 1% for primary operation. Early mortality is higher for reoperation (1% to 3%) and
can be as high as 5% to 10% if there are significant
comorbidities or significant LV dysfunction. Rebound hypertension can occur early after repair and may be prevented or
blunted by preoperative administration of a beta blocker.
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Morbidity in adults with reoperation for coarctation can be
considerable and may include significant early postoperative
bleeding, pleural effusion, lung contusion, recurrent laryngeal
nerve palsy, or phrenic nerve injury (with hemidiaphragmatic
paresis or paralysis). Other postoperative complications include recoarctation and hypertension. Aneurysm formation at
the repair site can occur after patch aortoplasty (particularly
with the use of a Dacron patch) or resection of the coarctation
shelf. False aneurysms may also occur at the repair site. Late
dissection proximal or distal to the repair site can occur.
Paraplegia secondary to spinal cord ischemia is rare but is
more common with poor collateral circulation. Arm claudication or subclavian steal syndrome is rare but in particular
may occur after use of the subclavian flap technique.
6.14.3. Recommendations for Key Issues to
Evaluate and Follow-Up
CLASS I
1. Lifelong cardiology follow-up is recommended for all patients
with aortic coarctation (repaired or not), including an evaluation by or consultation with a cardiologist with expertise in
ACHD. (Level of Evidence: C)
2. Patients who have had surgical repair of coarctation at the
aorta or percutaneous intervention for coarctation of the aorta
should have at least yearly follow-up. (Level of Evidence: C)
3. Even if the coarctation repair appears to be satisfactory, late
postoperative thoracic aortic imaging should be performed to
assess for aortic dilatation or aneurysm formation. (Level of
Evidence: B)
4. Patients should be observed closely for the appearance or
reappearance of resting or exercise-induced systemic arterial
hypertension, which should be treated aggressively after recoarctation is excluded. (Level of Evidence: B)
5. Evaluation of the coarctation repair site by MRI/CT should be
performed at intervals of 5 years or less, depending on the
specific anatomic findings before and after repair. (Level of
Evidence: C)
CLASS IIb
1. Routine exercise testing may be performed at intervals determined by consultation with the regional ACHD center. (Level of
Evidence: C)
All patients with either interventional catheterization or
surgical repair of coarctation of the aorta should have close
follow-up and aggressive management of blood pressure and
other risk factors for cardiovascular disease. This should
include at least yearly cardiology evaluations. Consultation
with a cardiologist with special expertise in ACHD should be
obtained on initial contact to determine risk factors specific
for the patient’s anatomy and the presence of associated
lesions. Evaluation of the repair site by MRI/CT should be
repeated at intervals of 5 years or less, depending on the
specific anatomic findings before and after repair. Consideration should be given to cumulative lifetime radiation exposure with multiple CT examinations.
Exercise and athletics have been addressed recently by the
36th Bethesda Conference (49). Significant residual or unre-
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paired coarctation, associated BAV with AS, or a dilated
aortic root warrants prohibition of contact sports, isometric or
heavy weight lifting, and sudden stop-start sports. It would be
prudent to have a cardiology consultation, stress testing, and
an echocardiogram before permitting low- to moderate-level
dynamic sports or light weight lifting.
6.14.5. Reproduction
Table 13.
in Adults
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Types of Right Ventricular Outflow Tract Obstruction
Congenital
Valvular
Dome-shaped pulmonic valve
Dysplastic pulmonary valve
Unicuspid or bicuspid pulmonary valve
Pregnancy in coarctation of the aorta continues to be a source
of concern, but major cardiovascular complications are infrequent (368). An assessment of the hemodynamic status,
severity of coarctation, and associated lesions, particularly
BAV, AS, or a significantly dilated root, should be undertaken before pregnancy for proper planning and advice. The
potential for aortic dissection remains, although it is quite
small unless the aorta is dilated significantly.
Patients with uncomplicated native coarctation or uncomplicated, recurrent coarctation that is successfully repaired do
not require endocarditis prophylaxis unless there is a prior
history of endocarditis or a conduit has been inserted or if
surgical repair or stenting has been performed less than 6
months previously (refer to Section 1.6, Recommendations
for Infective Endocarditis, for additional information).
7. Right Ventricular Outflow Tract
Obstruction
Infundibular stenosis, usually associated with tetralogy of Fallot
Associated with pulmonic stenosis, hypertrophic cardiomyopathy
Infundibular obstruction other than muscular
Tricuspid valve tissue
Fibrous tags from inferior vena cava or coronary sinus
Aneurysm of the sinus of Valsalva
Aneurysm of the membranous septum
Subinfundibular obstruction
Double-chambered right ventricle
Supravalvular stenosis
Hourglass deformity at valve
Pulmonary artery membrane
Pulmonary artery stenosis
Peripheral pulmonary artery stenosis
Associations: Rubella, Alagille, Williams, Keutel syndromes
Postoperative
Valvular
Native valve restenosis
Prosthetic valve stenosis
7.1. Definition
Obstruction to the RVOT in the adult patient can be either
congenital or acquired. Table 13 summarizes the various
forms.
Congenital obstruction can be at the pulmonary valve,
below the pulmonary valve, or above the pulmonary valve.
Below the pulmonary valve, obstruction can be either at the
infundibular or the subinfundibular level. Infundibular stenosis is a crucial component of tetralogy of Fallot (369). Other
congenital forms of infundibular stenosis include reactive
myocardial hypertrophy that is secondary to pulmonary
valvular stenosis or, much less commonly, stenosis of the
ostium of the infundibulum itself. Case reports of other
causes include a pouch of accessory tricuspid valve tissue or
an accessory tricuspid valve leaflet (370), fibrous tags from
the valve openings of the inferior vena cava or coronary sinus
that obstruct the RVOT (371), and aneurysms of either the
aortic sinus of Valsalva (372,373) or the membranous interventricular septum (374).
Subinfundibular stenosis or double-chambered right ventricle is a rare form of outflow obstruction that results in the
RV being divided into a high-pressure inlet portion and a
low-pressure outlet portion by a thick muscle bundle, the
hypertrophied septoparietal trabeculation, an anomalous apical shelf, or an abnormal moderator band (375,376). The
degree of obstruction can vary widely, and an associated VSD
is common.
The sequelae from surgical intervention may also result in
stenosis, at times requiring reintervention. Postoperatively,
valvular or conduit stenosis and regurgitation of implanted
Conduit stenosis
Peripheral stenosis after prior arterial shunt procedure to pulmonary
arteries
bioprosthetic pulmonary valves placed during childhood are
expected outcomes for many patients when they reach adulthood. Pulmonary valve and trunk stenosis of the pulmonary
homograft in patients undergoing the Ross procedure has
been a particularly difficult problem, seen in up to 20% of
patients in some series (377). Postoperative conduit stenosis
and regurgitation are also major issues for patients with
tetralogy of Fallot.
Pulmonary valvular, subvalvular, or supravalvular stenosis
may be an associated lesion in many patients with other forms
of complex CHD. In addition, a markedly dilated pulmonary
main trunk consistent with a low-pressure pulmonary artery
aneurysm may be present and is occasionally seen with PS.
These large main pulmonary artery aneurysms may achieve
considerable size and may appear as a mediastinal mass on
chest x-ray. They are usually asymptomatic, but in rare
situations, they compress contiguous areas such as the left
main coronary artery and then cause chest pain. Rupture is
extremely rare in these low-pressure, highly elastic vessels,
and so, in and of themselves, they do not require intervention
(378). This is in marked contrast to hypertensive pulmonary
aneurysms, which may rupture.
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7.3. Valvular Pulmonary Stenosis
7.3.1. Definition
Valvular PS is usually an isolated lesion, occurs in approximately 7% to 12% of all CHD, and accounts for 80% to 90%
of all lesions that cause RVOT obstruction (379). Its inheritance rate is low, ranging from 1.7% to 3.6% (380,381).
Approximately 20% of patients with valvular PS have a
dysplastic valve (382,383), and if part of Noonan syndrome,
these patients have an autosomal dominant trait with variable
penetrance that has been mapped to chromosome 12
(384,385).
There are 3 morphological types of clinical significance.
1. The typical dome-shaped pulmonary valve is characterized
by a narrow central opening but a preserved, mobile valve
mechanism. Three rudimentary raphes are usually present,
but clear-cut commissures are not identifiable. The pulmonary trunk is dilated, mostly owing to an inherent medial
abnormality. The jet from the stenotic valve tends to favor
flow to the left pulmonary arterial branch. Calcification of
the valve is occasionally seen in older adult patients.
2. The dysplastic pulmonary valve is less common. The leaflets
are poorly mobile, and there is marked myxomatous thickening with no commissural fusion. The pulmonary annulus and
the outflow tract may also be narrowed. The lesion is a
frequent component of the Noonan syndrome.
3. The unicuspid or bicuspid pulmonary valve is generally a
feature of tetralogy of Fallot. It may or may not create
significant obstruction itself.
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percutaneous valvuloplasty is more common if a residual
gradient greater than 30 mm Hg remains immediately after
the procedure. A dilated pulmonary artery may not decrease
in size after pulmonary valve intervention.
Unoperated Patient
CLASS I
1. Two-dimensional echocardiography-Doppler, chest x-ray, and ECG
are recommended for the initial evaluation of patients with
valvular PS. (Level of Evidence: C)
2. A follow-up physical examination, echocardiography-Doppler, and
ECG are recommended at 5-year intervals in the asymptomatic
patient with a peak instantaneous valvular gradient by Doppler
less than 30 mm Hg. (Level of Evidence: C)
3. A follow-up echocardiography-Doppler is recommended every 2
to 5 years in the asymptomatic patient with a peak instantaneous valvular gradient by Doppler greater than 30 mm Hg.
CLASS III
1. Cardiac catheterization is unnecessary for diagnosis of valvular
PS and should be used only when percutaneous catheter
intervention is contemplated. (Level of Evidence: C)
Valvular PS usually presents with an asymptomatic systolic
murmur, but occasionally, a patient will present with exercise
intolerance. Stenosis is rarely progressive when the initial
gradient is mild, but moderate PS can progress owing to
progressive valve stenosis or reactive hypertrophy of the
infundibulum.
The outcome of medically managed patients with PS was
discussed in the Second Natural History Study (104). Patients
with peak-to-peak catheterization-derived gradients greater
than 80 mm Hg underwent pulmonary valvotomy. Patients
with gradients greater than 50 mm Hg clearly did worse than
those with gradients less than 50 mm Hg (104).
Most adult patients with PS are normal in appearance. In the
Noonan syndrome, there is characteristically short stature,
webbed neck, hypertelorism, lymphedema, low-set ears and
hairlines, hyperelastic skin, chest deformities (eg, flat, pectus
excavatum or pectus carinatum), and micrognathia (383).
Approximately one third of Noonan patients are mentally
disabled, and cryptorchidism is common.
The cardiac examination of a patient with PS is dependent
on the severity of stenosis, the pathology of the valve, and any
associated cardiac lesions. The physical examination in mild
PS is characterized by a normal jugular venous pulse, no RV
lift, and a pulmonary ejection sound that tends to decrease
with inspiration. It is the only right-sided auscultatory event
that decreases with inspiration (owing to premature opening
of the pulmonary valve by the atrial kick into the stiff RV). A
pulmonary ejection murmur that increases with inspiration is
usually heard ending in mid systole. In severe PS, there is
usually an elevated jugular venous pressure with a prominent
“A” wave. An RV lift is common, and there is a much louder
and longer pulmonary ejection murmur with loss of the
ejection sound. Wide splitting of S2 may be present, and P2
may be reduced or absent. A right-sided S4 may also be heard.
Evidence for right-sided heart failure is uncommon until late
in the disease process.
7.4.2. Noonan Syndrome Patients With Prior Repair
PS is considered mild when the peak gradient across the
valve is less than 30 mm Hg, moderate when the gradient is
30 to 50 mm Hg, and severe when the gradient is greater than
50 mm Hg.
7.4.1. Unrepaired Patients
For the most part, the clinical issues regarding when to
intervene in the postoperative patient are similar to those for
patients before surgery. The main difference is in the presence of valvular regurgitation. In low-pressure pulmonary
regurgitation (mean pulmonary artery pressure less than
20 mm Hg), the diastolic gradient between the RV and
pulmonary artery may be quite small, and significant pulmonary regurgitation may be difficult to detect. Restenosis after
The ECG is usually normal when the RV systolic pressure is
less than 60 mm Hg, but more severe obstruction leads to
right atrial enlargement, right-axis deviation, and RV hypertrophy (386).
7.5.3. Chest X-Ray
The heart size on chest x-ray is normal unless there is an
associated cardiac lesion. Vascular fullness in the left lung
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base greater than the right base (Chen’s sign) is due to the
preferential pulmonary flow to the left lung in patients with
PS (387). Dilatation of the main pulmonary artery is common
in doming PS but not in dysplastic PS. Calcification of the
valve may rarely be seen in older patients. The right atrium
may be enlarged.
TTE is generally definitive, but in some patients, TEE may
better define the anatomy of the RVOT. A Doppler gradient
is readily determined and is used to define when to intervene.
Pulmonary valve mobility can also be assessed, along with
the presence of other cardiac lesions, and RV function can be
semiquantified. Saline microcavitations can help define any
right-to-left shunt due to a PFO. When the PS is severe,
systolic interventricular septal flattening may be present. In
patients with a dysplastic pulmonary valve, the valve can be
seen to be thickened and immobile, with the absence of
poststenotic dilation of the main pulmonary artery. Evidence
of pulmonary regurgitation should be sought by Doppler
examination.
Computed Tomography
In uncomplicated valvular PS, the use of MRI or CT is simply
confirmatory. These studies do provide excellent imaging of
the main, branch, and peripheral pulmonary arteries and are
useful when these associated lesions are of concern or to
assess the degree of pulmonary regurgitation or TR.
Cardiac catheterization is rarely necessary for diagnosis.
Gradients above, at, and below the pulmonic valve should be
obtained. A peak RV systolic pressure of less than 35 mm Hg
and a systolic pulmonary valve gradient of less than
10 mm Hg are considered the upper limits of normal. RV
angiography helps define contractile function, the presence of
infundibular obstruction, and mobility of the pulmonary
valve. Angiography of the pulmonary artery can assess the
degree of pulmonary regurgitation and any stenotic lesions in
the main, branch, or peripheral pulmonary arteries.
There is little progression in PS severity when the gradient
is less than 30 mm Hg; such patients can be followed up at
least every 5 years with a clinical examination and Doppler
echocardiogram. Those with more significant stenosis should
be followed up on a yearly basis. Most patients with PS who
reach adulthood are asymptomatic and require no specific
therapy. If a dynamic outflow tract obstruction exists, therapy
with drugs that slow the heart rate and improve diastolic
filling time (ie, beta blockers) (388) and those that might
potentially reduce the systolic gradient and improve lusitropy
(ie, calcium channel blockers and disopyramide) may also be
used clinically, in a manner similar to that in patients with
hypertrophic cardiomyopathy and other diseases of LV diastolic dysfunction. Elevated right-sided heart pressures,
edema, and ascites can be treated with thiazides, loop
diuretics, and aldosterone antagonists as appropriate.
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7.5.7. Relationship Between Peak Instantaneous
Doppler Echocardiographic Pressure Gradients and
Peak-to-Peak Cardiac Catheterization Gradients
The 2006 ACC/AHA valvular heart disease guidelines and
much of the older literature used the catheter-derived peakto-peak gradient across the pulmonary valve to determine
when to intervene in valvular PS (112). Patients with valvular
PS do not require cardiac catheterization for diagnosis,
however, and the relationship between the peak-to-peak
invasive hemodynamic gradient and the Doppler peak instantaneous gradient becomes relevant in deciding appropriateness for invasive evaluation and intervention. There are
recent data that suggest the peak-to-peak gradient by cardiac
catheterization correlates best with the mean Doppler (and
not peak instantaneous Doppler) gradient in this situation
(389) and that the peak instantaneous gradient systematically
overestimates the peak-to-peak cardiac catheterization gradient by slightly more than 20 mm Hg. Correlation of the
echocardiography-Doppler gradient with other clinical findings is important.
In the adult, the symptoms related to PS may be confused
with a variety of other conditions that need to be considered.
Some of these are noted below. A pulmonary velocity of up
to 2.5 m per s may be detected by echocardiography-Doppler
in patients with an ASD or pulmonary regurgitation. This
relates only to increased flow across the pulmonary valve and
does not imply coexistent PS.
7.6.1. Dyspnea
Dyspnea occurs in patients with severe PS. Whenever symptoms do not match the severity of the anatomy (ie, symptoms
with a PS gradient less than 50 mm Hg or no symptoms and
a severe PS gradient), exercise studies are often helpful in
assessment of functional capacity. A determination of maximal oxygen consumption along with exercise duration is also
useful.
7.6.2. Chest Pain
In the older patient or one with multiple risk factors for
coronary artery disease, if angina-type symptoms are present,
a stress imaging study should be done to help screen for
functional coronary artery disease. Markedly enlarged pulmonary artery aneurysms may rarely cause chest pain by
compression of the left main coronary artery.
7.6.3. Enlarging Right Ventricle
Progressive RV dilation in patients with PS suggests an
associated lesion such as ASD. In the postoperative patient,
this may imply restenosis or pulmonary regurgitation. The
severity of low-pressure pulmonary regurgitation may be
difficult to diagnose clinically or by echocardiography, because the RV end-diastolic pressure may be only a few
millimeters of mercury below the pulmonary arterial end-diastolic pressure. This results in a minor diastolic gradient that
is difficult to detect by auscultation and color Doppler
because the flow is laminar. Occasionally, imaging with MRI
or pulmonary angiography may be required.
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7.6.4. Pulmonary Arterial Hypertension
Patients with isolated valvular PS are not expected to have
PAH. If evidence of PAH is present, then other causes must
be considered, such as associated peripheral pulmonary artery
stenosis. Patients who had a systemic–to–pulmonary artery
shunt as a child may have branch pulmonary artery stenosis at
the site of the anastomosis. In some postoperative patients,
repair of the PS may have been only part of a larger surgical
procedure that included a late VSD closure or patent ductus
repair, and pulmonary vascular disease may now complicate
the clinical picture.
7.6.5. Cyanosis
Cyanosis is usually not part of RVOT lesions, unless there is
an associated ASD or a substantial increase in right atrial
pressure and right-to-left shunting through a PFO. Otherwise,
one should seek an alternative source of the cyanosis.
7.6.6. Systemic Venous Congestion
The presence of systemic venous congestion suggests significant RV dysfunction and is an uncommon finding in isolated
PS. Exceptions occasionally seen in adults are those patients
with cor pulmonale due to intrinsic lung disease or to
left-sided heart disease, those with constrictive pericarditis or
a restrictive cardiomyopathy, and those with severe TR due to
other causes (eg, endocarditis, percutaneous pacemaker, or
Ebstein’s anomaly). These diagnoses must be excluded before the right-sided heart failure is attributed to PS.
There is no specific medical therapy for valvular PS. If
right-sided heart failure occurs, it is treated primarily with
diuretics. There are few data to support the efficacy of
digoxin in this circumstance. Patients with atrial arrhythmias
often require either antiarrhythmic therapy, ablation, or both.
Sudden death is very rare (390). The treatment of significant
PS is either by percutaneous balloon valvuloplasty or by
surgical intervention.
7.7.1. Recommendations for Intervention in Patients
With Valvular Pulmonary Stenosis
CLASS I
1. Balloon valvotomy is recommended for asymptomatic patients
with a domed pulmonary valve and a peak instantaneous
Doppler gradient greater than 60 mm Hg or a mean Doppler
gradient greater than 40 mm Hg (in association with less than
moderate pulmonic valve regurgitation). (Level of Evidence: B)
2. Balloon valvotomy is recommended for symptomatic patients
with a domed pulmonary valve and a peak instantaneous
Doppler gradient greater than 50 mm Hg or a mean Doppler
gradient greater than 30 mm Hg (in association with less than
moderate pulmonic regurgitation). (Level of Evidence: C)
3. Surgical therapy is recommended for patients with severe PS
and an associated hypoplastic pulmonary annulus, severe
pulmonary regurgitation, subvalvular PS, or supravalvular PS.
Surgery is also preferred for most dysplastic pulmonary valves
and when there is associated severe TR or the need for a
surgical Maze procedure. (Level of Evidence: C)
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operations for the RVOT and pulmonary valve. (Level of Evidence: B)
CLASS IIb
1. Balloon valvotomy may be reasonable in asymptomatic patients with a dysplastic pulmonary valve and a peak instantaneous gradient by Doppler greater than 60 mm Hg or a mean
Doppler gradient greater than 40 mm Hg. (Level of Evidence: C)
2. Balloon valvotomy may be reasonable in selected symptomatic
patients with a dysplastic pulmonary valve and peak instantaneous gradient by Doppler greater than 50 mm Hg or a mean
Doppler gradient greater than 30 mm Hg. (Level of Evidence: C)
CLASS III
1. Balloon valvotomy is not recommended for asymptomatic patients with a peak instantaneous gradient by Doppler less than
50 mm Hg in the presence of normal cardiac output. (Level of
Evidence: C)
2. Balloon valvotomy is not recommended for symptomatic patients with PS and severe pulmonary regurgitation. (Level of
Evidence: C)
3. Balloon valvotomy is not recommended for symptomatic patients with a peak instantaneous gradient by Doppler less than
7.7.2. Percutaneous Balloon Pulmonary Valvotomy
Since the initial successful report of percutaneous balloon
valvotomy for pulmonary valve stenosis in 1982 (391), the
procedure has evolved to become the treatment of choice for
patients with classic domed valvular PS. Balloon valvotomy
produces relief of the gradient by commissural splitting. As
might be expected from the morphology, results in patients
with a dysplastic pulmonary valve are less impressive. In the
Valvuloplasty and Angioplasty of Congenital Anomalies
(VACA) registry, in 784 cases, the mean transvalvular
gradient declined from 71 to 28 mm Hg in patients with
typical PS and from 79 to 49 mm Hg in patients with a
dysplastic valve (392).
The procedure is usually performed from the right femoral
vein. Because of the elasticity of the pulmonary annulus, it
has been found that oversizing the balloons up to 1.4 times
the measured pulmonary annulus is more effective in achieving a successful result (usually defined by a final valvular
gradient of less than 20 mm Hg). To accomplish this oversizing in adults, a double-balloon procedure is frequently
used. In general, acute complications from the procedure
have been minimal. During the acute performance of the
valvotomy, vagal symptoms predominate, along with
catheter-induced ventricular ectopy and occasionally right
bundle-branch block. Other complications include pulmonary
valve regurgitation, pulmonary edema (presumably from
increasing pulmonary blood flow to previously underperfused
lungs), cardiac perforation and tamponade, high-grade AV
nodal block, and transient RVOT obstruction. The latter is
sometimes referred to as a “suicidal right ventricle” and is due
to abrupt infundibular obstruction once the pulmonary valve
obstruction has been relieved (393). This may be alleviated
by volume expansion and beta blockade. This postprocedural
infundibular obstruction tends to regress over time.
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7.7.3. Surgical Pulmonary Valvotomy or
Valve Replacement
In 1948, the first pulmonary valve commissurotomies were
reported by Sellors (394). Varco introduced the technique of
“blind” pulmonary valvotomy in 1951 (395), although better
results were found with direct visualization and open techniques quickly became the norm. In patients with a dysplastic
valve, partial or total valvectomy was required, and often, a
transannular patch was needed owing to annular or pulmonary trunk hypoplasia. Residual pulmonary valve regurgitation is commonplace with all these procedures (396), and late
pulmonary valve replacement is often necessary decades
later.
In patients with PS and significant valvular regurgitation,
valve replacement may be required. Mechanical valve replacement (397) is rarely used because of concerns regarding
thrombosis and the potential need for measurement of pulmonary pressures; mechanical PVR can be considered in
selected patients who have had multiple previous operations
and are undergoing warfarin therapy because of another
mechanical valve prosthesis. Owing to low pulmonary artery
pressure and slow flow despite anticoagulation, there is a high
risk of valve thrombosis with mechanical prosthetic valves in
the pulmonary position. Bioprosthetic valves (398) can be
effectively implanted with good durability in patients of all
ages, although valvular degeneration eventually ensues in all.
The bovine jugular vein valved xenograft has also been used
with good early but mixed late results (399). Although
pulmonary homograft replacement (398) is a popular means
of surgical reconstruction in children, it has limited durability
in the adult patient, especially in the setting of elevated
pulmonary artery pressures. Stenosis of the pulmonary homograft has been a particular issue in patients undergoing the
Ross procedure (400).
In patients with a markedly dilated main pulmonary artery
associated with PS, there are no guidelines to suggest a
particular size that requires operative intervention. Because
these are low-pressure aneurysms that rarely, if ever, rupture,
the decision to intervene surgically is usually a function of
whether they are symptomatic, are compressing contiguous
structures, or are associated with pulmonary regurgitation and
subsequent right ventricle enlargement (378). In these patients, reduction pulmonary arterioplasty or main pulmonary
artery replacement with a tube graft or valved tube graft can
be accomplished.
Early mortality for isolated pulmonary valve operation is
approximately 1% in children. There are no comparable adult
data. Freedom from reoperation for bioprosthetic valve deterioration is approximately 90% at 10 years. Residual obstruction may progress. Pulmonary regurgitation may occur;
progression of pulmonary regurgitation may eventually necessitate pulmonary valve replacement. Late survival is
similar to that of an age-matched population when valvular
RVOT obstruction occurs as an isolated lesion.
7.8. Recommendation for Clinical Evaluation
and Follow-Up After Intervention
CLASS I
1. Periodic clinical follow-up is recommended for all patients after
surgical or balloon pulmonary valvotomy, with specific attention
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given to the degree of pulmonary regurgitation; RV pressure, size,
and function; and TR. The frequency of follow-up should be
determined by the severity of hemodynamic abnormalities but
should be at least every 5 years. (Level of Evidence: C)
The murmur of pulmonary regurgitation is easily missed
on clinical examination, because it is soft and often short
owing to the rapid equilibration of pulmonary artery diastolic
pressure with the diastolic pressure in the right ventricle. It
may be missed on echocardiography because of minimal
turbulence and only small pressure differences between the
right ventricle and the pulmonary artery. After pulmonary
valvuloplasty the heart size should be normal on chest x-ray.
A progressively increasing heart size should prompt the
search for pulmonary regurgitation or another lesion. The
development of atrial arrhythmias should also prompt a
search for residual hemodynamic lesions such as pulmonary
regurgitation.
Long-term follow-up data for percutaneous balloon pulmonary valvotomy are now available for up to 10 years. In one
representative study (401), mean follow-up of 6.4 plus or
minus 3.4 years was available in 62 patients. Some persistent
pulmonary regurgitation was present in 39%, and the restenosis (greater than 35 mm Hg at follow-up) rate was only
4.8%. In a smaller study in adults (402) followed up for 4.5
to 9 years, no restenosis was reported in 24 patients after the
gradient was reduced from 82 plus or minus 29 mm Hg to 37
plus or minus 14 mm Hg by the acute procedure. In another
report of 127 adult patients without valve dysplasia, excellent
results were also observed, with a residual gradient primarily
found only in those patients who had an inadequate initial
result (403). In the VACA registry (404), follow-up data were
available on 533 patients a mean of 8.7 years after valvotomy.
A suboptimal result (defined as gradient greater than
35 mm Hg at the end of the procedure) was present in 23%.
Valve morphology and annulus size were the most significant
predictors of long-term results. Pulmonary regurgitation was
more commonly seen when the balloon-to-annulus ratio
exceeded 1.4, which suggests an optimal ratio of 1.2 to 1.4.
Subjective grades of pulmonary regurgitation reported included the following: none (26%), trivial (22%), mild (45%),
moderate (7%), and severe (0%). Failure of the original
procedure to reduce the gradient significantly also predicted
poor long-term success. When restenosis does occur after
percutaneous balloon pulmonary valvotomy, it appears that a
repeat procedure is effective in patients without dysplastic
pulmonary valves (405). Several studies have been reported
that compared balloon valvotomy with matched surgical
control patients (392,406,407).
In 1 study (406), gradients were slightly but statistically
higher in the post– balloon valvotomy group than in the
surgical cohort (24 plus or minus 2.7 versus 16 plus or minus
1.5 mm Hg). Pulmonary regurgitation, however, was absent
(55%) or mild (45%) in the valvuloplasty group yet at least
mild (45%) or moderate (45%) in the surgical cohort. Ventricular ectopy was also much more common in the surgical
group (70% versus 5%). Thus, overall results were more
favorable in the balloon valvotomy group.
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Percutaneous balloon valvotomy thus appears to be an
excellent alternative to surgical valvuloplasty or valve replacement in most patients with classic, doming, valvular PS.
Its use in patients with a dysplastic valve is much less
established, although several authors have suggested situations wherein it may be feasible (408,409). Postoperative
valvular, conduit, or homograft stenosis contributes to the
causes of clinical RVOT obstruction, with valvular degeneration expected after approximately 10 to 12 years (410).
There are some data showing that porcine valves may outlast
homografts in children (411). After surgical valvotomy,
pulmonary regurgitation is common, and after 3 to 4 decades,
RV dysfunction and secondary TR may ensue, necessitating
pulmonary valve replacement in some patients. This should
be undertaken before there is severe RV enlargement and
any more than mild RV dysfunction. Deteriorating exercise
capacity or the onset of atrial or ventricular arrhythmias is
also a sign of the need for pulmonary valve replacement.
This emphasizes the need for lifelong follow-up in such
patients (412).
7.8.1. Reproduction
Pregnancy is well tolerated unless the lesion is extremely
severe. Percutaneous valvotomy can be performed during
pregnancy if necessary, although the need is unusual.
Pulmonary valve endocarditis is very rare, and endocarditis
prophylaxis is not recommended (413) (refer to Section 1.6,
Recommendations for Infective Endocarditis, for additional
information).
The 1986 AHA committee report (414) recommends no
restriction of activity with mild PS and nonstrenuous exercise
with moderate PS; it restricts only those with severe PS. For
the competitive athlete, the special ACC Task Force report
(415) recommends that PS patients with peak gradients less
than 50 mm Hg may participate in all competitive sports,
although those with more severe PS should participate only in
low-intensity sports.
Supravalvular, Branch, and Peripheral
Pulmonary Artery Stenosis
Abnormal narrowing of the main pulmonary artery, the major
pulmonary arterial branches, and the peripheral pulmonary
arteries can all lead to obstruction of RV outflow. Supravalvular PS or pulmonary arterial stenosis is caused by narrowing of the main pulmonary trunk, the pulmonary arterial
bifurcation, or the primary and/or intrapulmonary branches.
One variant, the hourglass pattern, is similar to SupraAS and
is technically a form of valvular PS, because it is due to
stenosis at the commissural ridge of the valve (416). The
other pulmonary supravalvular lesions are in the main
branches or more peripheral and range from single focal
lesions to diffuse hypoplastic ones to frank occlusion; they
may be secondary to previous placement of a pulmonary
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artery band. The pulmonary arterial segments distal to patent
stenotic lesions often exhibit poststenotic dilation. Membranous forms of obstruction both above and below the pulmonary valve have also been described. Central and peripheral
pulmonary artery stenosis may be a major cardiovascular
feature in the Alagille and Keutel syndromes (417– 421).
Pulmonary artery stenoses are also sequelae of the congenital
Rubella syndrome, Williams syndrome, or scarring at the site
of a previous pulmonary artery band or aorticopulmonary
shunt. These lesions appear pathologically as areas of fibrous
intimal proliferation with varying degrees of medial hyperplasia and loss of elastic fibers in the affected areas. The
lesions can be single or multiple, and their severity can range
from mild valvular stenosis to complete occlusion. Similar
lesions have been reported in patients with systemic vasculitis, such as Behcet or Takayasu arteritis, and in patients with
Ehlers-Danlos and Silver syndrome. Owing to the normally
low vascular resistance present in the pulmonary circuit, a
great deal of vascular obstruction is required to result in PAH.
Despite the fact that it is unclear what severity of stenosis is
truly flow-limiting in the pulmonary arteries, most clinicians
define an angiographically significant lesion to be greater
than 50% diameter narrowing. These significant lesions
would be expected to have a pressure gradient across them
and to result in hypertension in the more proximal pulmonary
artery.
7.9.2. Clinical Course
Peripheral pulmonary artery stenoses tend to occur in multiple tertiary branches of the pulmonary tree and are progressive; by the time patients are seen as adults, there may be
considerable loss of lung parenchyma due to totally occluded
segmental pulmonary arteries. With PAH, pulmonary valve
regurgitation may be expected.
Unrepaired Patient
The clinical symptom complex is similar to that of valvular
PS. Dyspnea and chest pain are uncommon. In severe cases,
RV dilation and associated TR may occur. Most patients seen
in adulthood are patients referred for suspected primary PAH
or chronic pulmonary thromboembolic disease. In the evaluation of a patient with suspected PAH, the presence of
peripheral bruits over the back or on either lateral side of the
chest during auscultation should raise the suspicion of peripheral PS. These pulmonary vascular bruits are usually systolic
only but may be continuous and increase with inspiration.
Cyanosis may appear if elevated right atrial pressures result
in right-to-left shunting across a PFO.
Findings of certain syndromes should raise suspicion for
the presence of pulmonary vessel stenotic lesions. The
sequelae of the congenital Rubella syndrome consist of
cataracts, deafness, hypotonia, retinopathy, dermatoglyphic
abnormalities, and mental disability (422), and PS and peripheral PS are not uncommon.
The Alagille syndrome is an autosomal dominant disorder
also called arteriohepatic dysplasia. The prominent features
include deep-set eyes, a small pointed chin, and a prominent
overhanging forehead (419). Abnormalities of the liver, heart,
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eyes, kidney, and skeleton occur, and peripheral PS frequently accompanies the disorder.
The Williams syndrome phenotype has micrognathia, a
large mouth and lips, an upturned nose, hypertelorism,
malformed teeth, broad forehead, and baggy cheeks (420).
SupraAS coexists with peripheral PS.
The Keutel syndrome (423) consists of diffuse calcification
of the cartilage, short stubby fingers (brachytelephalangism),
hearing loss, and peripheral PS. It is a rare disorder believed
to be autosomal recessive in its inheritance pattern.
ECG criteria for RV hypertrophy with strain and right-axis
deviation are commonplace in the adult and are related to the
severity of the lesion and the RV systolic pressure.
7.10.2. Chest X-Ray
The lung fields on chest x-ray may reveal varying shadows of
poststenotic peripheral arterial dilatations in patients with
peripheral PS.
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the patient presents with dyspnea of unknown origin. Elevated RV systolic pressure identified by echocardiography
should prompt a search for causes of PAH that include
collagen vascular disease, portal hypertension, human immunodeficiency virus, use of anorexigens, veno-occlusive disease, sleep apnea, chronic obstructive pulmonary disease, and
sarcoidosis (424).
7.11.2.1. Medical Therapy
Because these supravalvular lesions are mechanical obstructions, there are no effective medical therapies, except for the
treatment of right-sided heart failure when it occurs. However, there are interventional therapies that may be attempted.
7.12. Recommendations for Interventional
Therapy in the Management of Branch and
Peripheral Pulmonary Stenosis
CLASS I
TTE-Doppler helps confirm the presence of RV systolic
hypertension and any pulmonary valve regurgitation. Echocardiography may also be able to define proximal pulmonary
branch stenosis. It is of much less value in the identification
of peripheral PS. TEE is likewise useful only when there are
proximal pulmonary artery lesions. Radionuclide studies
reveal the severity of peripheral PS in different lung
segments.
Computed Tomography
Cardiac MRI with pulmonary angiography and CT are much
superior to echocardiography-Doppler for imaging these lesions, and both can help confirm the diagnosis.
Cardiac catheterization with contrast angiography is definitive and provides additional information regarding the extent
of these lesions, the angiographic severity, the pressure drop
across the lesions, and the degree of any associated PAH.
Patients With Supravalvular, Branch, and
Peripheral Pulmonary Stenosis
CLASS I
1. Patients with suspected supravalvular, branch, or peripheral PS
should have baseline imaging with echocardiography-Doppler plus
1 of the following: MRI angiography, CT angiography, or contrast
angiography. (Level of Evidence: C)
2. Once the diagnosis is established, follow-up echocardiographyDoppler to assess RV systolic pressure should be performed
periodically, depending on severity. (Level of Evidence: C)
Patients with peripheral PS lesions may present with what
appears to be a functional precordial murmur. Auscultation
over the lung fields should reveal the characteristic vascular
bruits. Many patients are asymptomatic. More often in adults,
1. Percutaneous interventional therapy is recommended as the
treatment of choice in the management of appropriate focal
branch and/or peripheral pulmonary artery stenosis with
greater than 50% diameter narrowing, an elevated RV systolic
pressure greater than 50 mm Hg, and/or symptoms. (Level
of Evidence: B)
2. In patients with the above indications for intervention, surgeons with training and expertise in CHD should perform
operations for management of branch pulmonary artery stenosis not anatomically amenable to percutaneous interventional
therapy. (Level of Evidence: B)
Branch pulmonary artery stenosis and/or hypoplasia may
be associated with a variety of cardiac malformations or may
be a residual from prior surgical intervention, such as an
anastomotic lesion at the distal site of a prior Blalock-Taussig
or Potts shunt procedure. Surgical exposure to these areas is
often difficult, which favors attempts at percutaneous approaches. In some series, the acute success rate— defined as
an increase of greater than 50% of predilation vessel diameter
or a 20% decrease in systolic RV–to–aortic systolic pressure
ratio (425)— has been as high as 60% initially. Complications
have included arterial rupture, unilateral or segmental edema,
thrombosis, and hemoptysis. In some instances, higherpressure balloon inflations have improved results.
The highly elastic pulmonary arteries have proved resilient
to balloon procedures, and angioplasty methods have generally given way to stent procedures in which there appears to
be a higher initial success rate and a lower intermediate-term
incidence of restenosis (426). When restenosis does occur, it
may respond to redilation. Stents have proved effective
compared with either percutaneous angioplasty or surgical
intervention in this situation. Stenting of branch PS has also
been used in the operating room as adjunctive therapy.
The use of balloon angioplasty and stenting may also be
applied to more distal peripheral PS, although the results have
generally been less impressive than with branch stenosis
(427). Although initial angiographic results from stenting in
this situation often appear encouraging, there are currently
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inadequate data to recommend the routine use of percutaneous intervention for patients with distal peripheral PS. Surgical intervention with patch enlargement is feasible for
supravalvular PS when an oval patch is used (428), and more
proximal branch stenosis may also be approached surgically
if the vessel is of adequate size. More peripheral stenotic
segments cannot usually be corrected with surgery. At times,
the only alternative for patients with severe peripheral PS
associated with major loss of lung parenchyma is lung
transplantation.
7.12.1. Recommendations for Evaluation and
Follow-Up
CLASS I
1. Patients with peripheral PS should be followed up every 1 to 2
years, on the basis of severity, with a clinical evaluation and
echocardiography-Doppler to evaluate RV systolic pressure and
RV function. (Level of Evidence: C)
2. Discussion with a cardiac surgeon with expertise in CHD should
take place before percutaneous peripheral pulmonary artery interventions are undertaken. (Level of Evidence: C)
The lesions in peripheral PS may be progressive, so
patients should be followed up every 1 to 2 years with
echocardiography-Doppler to assess RV peak systolic pressure and function. If symptoms recur, then reimaging of the
pulmonary arteries is required to assess whether restenosis
has occurred and whether further intervention is feasible.
Restenosis of these lesions is common, and repeat percutaneous angioplasty, stenting, or surgical intervention may be
required when this occurs. When questions arise, consultation
between the interventionalist and a congenital heart surgeon
is necessary to determine the best approach.
Stenotic Right Ventricular–Pulmonary Artery
Conduits or Bioprosthetic Valves
Some gradient is to be expected across any RV–pulmonary
artery conduit or any bioprosthetic valve placed in the RVOT.
A variety of conduit types have been used in the RVOT, some
with valvular tissue and some without. Pulmonary homografts have now come into widespread use, although
bioprosthetic (porcine or pericardial) pulmonary valve replacements are still performed. Several groups have also
reported experience with use of the valved bovine jugular
venous conduit (Contegra), although some issues regarding
stenosis at the distal pulmonary site have been noted (429).
The normal gradient anticipated across the various prosthetic
valves is dependent on the valve size and the flow across the
valve. Associated pulmonary regurgitation increases the gradient. A recent review from the American Society of Echocardiography outlines the normally expected Doppler gradients for all prosthetic valves (430) and takes into account the
type of valve and the size. Stenosis of the RV–pulmonary
artery conduit or any bioprosthetic valve in this position may
be graded with the peak Doppler gradient, with a 50-mm Hg
gradient considered severe stenosis. This would be expected
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to result in an RV systolic pressure equal to or greater than
75 mm Hg. In children and young adults, a ratio of RV
systolic to LV systolic pressure greater than 0.67 is another
parameter for defining a severe lesion. In older adults, the
systemic resistance is much higher than in children, and the
use of this ratio has been less helpful.
7.13.2 Recommendation for Evaluation and
Follow-Up After Right Ventricular–Pulmonary Artery
Conduit or Prosthetic Valve
CLASS I
1. After surgical relief of RVOT obstruction with a conduit or prosthetic valve, patients should be followed up on a 1- to 2-year basis
with echocardiography-Doppler assessment of RV systolic pressure and function, as well as a measurement of the gradient
across the RVOT. (Level of Evidence: C)
A precordial systolic murmur that transmits to the back is an
important sign of conduit obstruction. The pulmonary closure
sound is usually inaudible. In patients with significant RV
obstruction, jugular venous distension with a prominent A
wave may be appreciated.
Because all bioprosthetic valves and conduit valves eventually degenerate, both pulmonary regurgitation and stenosis
will ensue. As with many lesions that result in RV pressure or
volume overload, the ECG may reflect RV hypertrophy or
any associated arrhythmias.
7.13.5. Chest X-Ray
The chest x-ray may reveal an enlarging right side of the heart
or calcification within the valve or conduit.
TTE and Doppler are particularly helpful in delineating
hemodynamics and facilitate measurement of RV pressure,
RV size and function, and gradient across the conduit and
prosthetic valve; however, tubular narrowing in a conduit is
often associated with underestimation of the gradient.
Computed Tomography
CT and MRI can be used to help define lesion severity and
may demonstrate conduit adherence to the sternum, something of interest to the surgeon if a reoperation is
contemplated.
Because distal conduit stenosis is frequent, cardiac catheterization and angiography in addition to CT and MRI can
define the level and severity of stenosis.
7.14. Recommendations for Reintervention in
Patients With Right Ventricular–Pulmonary
Artery Conduit or Bioprosthetic Pulmonary
Valve Stenosis
CLASS I
operations for patients with severe pulmonary prosthetic valve
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stenosis (peak gradient greater than 50 mm Hg) or conduit
regurgitation and any of the following:
a. Decreased exercise capacity. (Level of Evidence: C)
b. Depressed RV function. (Level of Evidence: C)
c. At least moderately enlarged RV end-diastolic size. (Level of
Evidence: C)
d. At least moderate TR. (Level of Evidence: C)
CLASS IIa
1. Either surgical or percutaneous therapy can be useful in
symptomatic patients with discrete RV–pulmonary artery conduit obstructive lesions with greater than 50% diameter narrowing or when a bioprosthetic pulmonary valve has a peak
gradient by Doppler greater than 50 mm Hg or a mean gradient
greater than 30 mm Hg. (Level of Evidence: C)
2. Either surgical or percutaneous therapy can be useful in
asymptomatic patients when a pulmonary bioprosthetic valve
has a peak Doppler gradient greater than 50 mm Hg. (Level of
Evidence: C)
CLASS IIb
1. Surgical intervention may be considered preferable to percutaneous catheter intervention when an associated Maze procedure is being considered for the treatment of atrial arrhythmia.
trials and has yet to be shown to be effective in patients with
native valvular PS or regurgitation.
7.14.3. Surgical Intervention
Surgical intervention is generally required once there is
evidence of important RV enlargement or the development of
significant TR. Because of the complexity of these procedures at times, surgical intervention should be done by a team
with specific expertise in ACHD issues.
7.14.4. Key Issues to Evaluate and Follow-Up
Most patients are not limited physically unless the gradient
across the conduits or prosthetic valves is greater than
50 mm Hg. Pregnancy is well tolerated unless RV failure is a
major issue. Much as with postprocedural valvular PS, the
degree of obstruction and the severity of the pulmonary
regurgitation determine the frequency of follow-up and the
necessary studies. For asymptomatic patients with RV pulmonary artery conduits (with or without a valve) and for those
with prosthetic pulmonary valves, regular follow-up with
echocardiography-Doppler is usually sufficient. Endocarditis
prophylaxis is recommended for patients with a prosthetic
pulmonary valve or conduit (refer to Section 1.6, Recommendations for Infective Endocarditis).
7.15. Double-Chambered Right Ventricle
Medical management of symptomatic patients with residual
or recurrent RVOT obstruction is limited to diuresis and is
generally ineffective. There are no effective preventative
treatments.
7.14.2. Interventional Catheterization
Both angioplasty and stenting have been applied to obstruction in an RV–to–pulmonary artery conduit. Such cases can
present difficult issues, and the decision to proceed with a
percutaneous intervention should be made in association with
an ACHD surgeon or an ACHD interventionalist. Several
investigators have reported success in reducing gradients in
RV–to–pulmonary artery conduits or bioprostheses using
balloon dilation (431,432), stenting, or percutaneous valve
replacement (431– 433). The value of these options often
depends on whether a discrete obstruction occurs at the
stenotic conduit valve or is the result of conduit compression
between the sternum and heart, intimal peel formation, or
obstruction at the ventricular anastomosis. Obstruction of the
distal end of the conduit may be amenable to percutaneous
balloon intervention in which the procedure may be useful as
a temporary palliation that allows postponement of surgical
intervention (434).
A potential alternative to either balloon dilation or stenting
in conduit obstruction has been presented recently by Bonhoeffer et al (435), wherein pulmonary valves have been
implanted percutaneously within the stenotic conduit. The
authors used a bovine jugular venous valve mounted onto a
balloon-expandable stent for percutaneous placement. Although the procedure is investigational, it appears quite
possible that this approach will evolve to provide an excellent
option for the therapy of conduit stenosis and regurgitation.
The procedural concept has yet to be proven in larger clinical
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In patients with a double-chambered right ventricle, the right
ventricle is divided into a higher-pressure proximal chamber
and lower-pressure distal chamber by anomalous myocardial
muscle bundles. The morphological features may be very
diverse and may involve an anomalous septoparietal band, an
anomalous apical shelf, or an abnormal moderator band
(376). The distance between the moderator band and the
pulmonary artery may be abnormally short (436).
Although the anatomic substrate is congenital, the degree
of RVOT obstruction is progressive over time. In approximately three fourths of cases, the VSD is below (proximal to)
the level of the midventricular obstruction. Complete or
partial spontaneous closure of the VSD can produce worsening RV outflow obstruction and dysfunction. Other associations include valvular PS, tetralogy of Fallot, and doubleoutlet right ventricle. Unlike tetralogy of Fallot, there is also
subaortic obstruction in a number of these patients. The
anomaly is uncommon and occurs in approximately 1% of
patients with CHD (437). No genetic pattern has been
identified, although it has been reported to develop in
approximately 3% of patients with repaired tetralogy of Fallot
and 3% to 10% of patients with an isolated VSD (438,439).
7.15.2. Clinical Features and Evaluation of the
Unoperated Patient
Although most patients undergo repair before adulthood,
some present much later. Symptoms in the adult may mimic
coronary disease (angina) or LV dysfunction (dyspnea).
Occasionally, dizziness and syncope may occur. Some patients are recognized because of the increasing intensity of a
systolic murmur, previously ascribed to a small VSD or
functional murmur.
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If midventricular obstruction is marked, the resulting hypertrophy results in an RV heave, and the murmur across the
obstruction is harsh, increases with inspiration, and may be
accompanied by a palpable thrill. The murmur of an associated VSD may be evident if present. If there is an associated
interatrial connection, or the VSD is proximal to the obstruction, cyanosis may occur. Rarely, RV failure and TR develop
as the obstruction progresses. In 1 study of patients without
repair, the midventricular gradients increased an average of
6.2 plus or minus 3 mm Hg each year (440).
The ECG usually suggests RV hypertrophy. Right-sided leads
may help confirm the diagnosis, with upright T waves in V3R
in 40% of the patients tested (441).
7.15.5. Echocardiography-Doppler Imaging
The TTE is diagnostic, with demonstration of the hypertrophy
and Doppler/color flow evidence of midventricular gradient.
The VSD may be noted. TEE is not usually necessary for the
diagnosis.
In addition to TTE, MRI is the most useful imaging modality
for defining the anatomy (442).
Cardiac catheterization and angiography are confirmatory
and provide relevant imaging and hemodynamic and shunt
information but are rarely necessary to establish the
diagnosis.
7.16.1. Multiple Levels of Right Ventricular Outflow
Tract Obstruction
As noted previously, RVOT obstruction can occur at multiple
levels that can exist simultaneously. The peak RV systolic
pressure, as estimated by echocardiography-Doppler via the
TR jet, may be the result of more than 1 level of obstruction;
therefore, it is important to investigate this possibility thoroughly before surgical intervention is considered. This is
particularly important in the adult, in whom prior surgical
procedures and other causes of PAH may complicate the
clinical picture.
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if no other cause of symptoms can be discerned. (Level of
Evidence: C)
Echocardiography or cardiac MRI should be used for
follow-up. In patients with anginal symptoms, cardiac catheterization to exclude coronary disease may be warranted.
Because there may be some dynamic obstruction contributing
to the gradient, beta blockers and calcium channel blockers
may be tried, but there are few data as to the effectiveness of
any medical intervention, and significant (greater than 60mm Hg peak Doppler gradient) stenosis should be treated
with surgical resection.
Isolated case reports of the use of percutaneous balloon
techniques, stenting, and alcohol ablation have been reported
in patients with subvalvular fibromuscular obstruction, with
variable success (443– 445). Alcohol ablation of a feeding RV
conus branch artery was reported to result in a reduction in
the outflow tract gradient. Stenting may also prove to be
effective, although stent fracture may occur (446), which
raises concerns about stent integrity in the contracting RVOT.
Currently, there are no follow-up or comparative results
available to suggest any of these percutaneous options are
preferable to a surgical approach in these patients.
In patients with double-chambered right ventricle, resection and outflow-enlarging procedures have been very effective, with excellent long-term results (447). Many also
require repair of an associated VSD.
Most patients do well after surgical intervention of the
midventricular obstruction and have few physical limitations.
The recurrence of obstruction after adequate surgical repair is
quite rare, and follow-up of associated congenital defects
usually takes precedence when these patients are reevaluated.
There are case reports of patients developing a doublechambered RV after repair of either tetralogy of Fallot (438)
or a perimembranous VSD (448). Activity is usually unlimited after surgery. Endocarditis prophylaxis is not recommended (refer to Section 1.6, Recommendations for Infective
Endocarditis, for additional information).
8. Coronary Artery Abnormalities
8.1. Definition and Associated Lesions
7.17.1. Recommendations for Intervention in Patients
With Double-Chambered Right Ventricle
CLASS I
1. Surgery is recommended for patients with a peak midventricular
gradient by Doppler greater than 60 mm Hg or a mean Doppler
gradient greater than 40 mm Hg, regardless of symptoms. (Level
of Evidence: B)
CLASS IIb
1. Symptomatic patients with a peak midventricular gradient by
Doppler greater than 50 mm Hg or a mean Doppler gradient
greater than 30 mm Hg may be considered for surgical resection
This section includes discussion of patients with acquired
coronary anomalies as a result of surgical manipulation of
their congenital anomaly, as well as those patients with
congenital coronary abnormalities associated with ectopic
origins of the coronary arteries.
8.1.1. General Recommendations for Evaluation and
Surgical Intervention
CLASS I
1. Any patient with CHD who has had coronary artery manipulation should be evaluated for coronary artery patency, function,
and anatomic integrity at least once in adulthood. (Level of
Evidence: C)
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operations for the treatment of coronary artery anomalies.
Surgical results after the use of reconstruction of the
coronary ostium or bypass grafting, depending on anatomy of
the lesions noted, have been described, without long-term
follow-up (365). In addition to the more commonly noted
coronary abnormalities described elsewhere in this section,
late development of coronary artery disease that requires
revascularization (percutaneous or surgical) has been shown
to occur after the Ross procedure, aortic and pulmonary
atresia, and Kawasaki disease (449).
Anomalies Associated With Supravalvular
Aortic Stenosis
CLASS I
1. Adults with a history or presence of SupraAS should be
screened every 1 or 2 years for myocardial ischemia. (Level of
Evidence: C)
2. Interventions for coronary artery obstruction in patients with
SupraAS should be performed in ACHD centers with demonstrated
expertise in the interventional management of these patients.
Although SupraAS may be the least common of the lesions
of the LV outflow, lesions may be associated with coronary
obstruction from partial to complete ostial obliteration, and
patients with these lesions are also at risk for ectasia and
aneurysm of the coronary arteries (360). Pathological specimens with diffuse or focal intimal and medial fibrosis,
hyperplasia, dysplasia, adventitial fibroelastosis, and occasional intramedial dissection have been reported in children
and more commonly in adults (361–363).
8.2.1. Clinical Course (Unrepaired)
Clinical presentation with ischemic symptomatology referable to insufficient coronary artery flow has been reported
due to either anatomic obstruction or myocardial hypertrophy
that limits nonepicardial coronary flow (364).
8.2.2. Clinical Features
There are no current data describing the incidence of coronary artery symptomatology or outcomes in adults with
SupraAS. Nonetheless, given the similarity of pathology to
other diffuse coronary arteriopathies, the present writing
committee would recommend noninvasive screening for
myocardial ischemia in all adults with SupraAS, regardless of
repair status. If further definition of coronary artery anatomy
were suggested, other imaging modalities such as cardiac
catheterization, CT angiography, or intravascular ultrasonography might better define the nature and extent of diseased
vessel before consideration of repair.
Associated With Tetralogy of Fallot
CLASS I
1. Coronary artery anatomy should be determined before any
intervention for RV outflow. (Level of Evidence: C)
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Abnormalities seen in CHD include single coronary artery,
coronary arteriovenous fistula, intramural coronary artery,
supravalvular ridge, accessory left anterior descending coronary artery, and anomalous coronary artery from the pulmonary artery. The most common and important abnormality is
the left anterior descending coronary artery arising from the
right coronary artery and crossing the RV outflow, which
occurs in approximately 3% to 7% of persons with tetralogy
of Fallot. The occurrence is more common when the aortic
root is more anterior, rightward, or lateral (450).
Given the remarkable survival of adults with tetralogy, it is
not of surprise that occurrence of atherosclerotic coronary
artery disease has been described (451).
8.3.1. Preintervention Evaluation
Coronary artery origin and course should be delineated before
any surgical or interventional procedure, because the potential exists for damage to anomalous coronary arteries to occur
during cardiac exposure, surgery on the RVOT, and stenting
of RV outflow.
Interventions
Coronary artery bypass and percutaneous coronary interventions for occurrence of atherosclerotic disease in adults with
tetralogy of Fallot have been described (451).
Associated With Dextro-Transposition of the
Great Arteries After Arterial Switch Operation
CLASS I
1. Adult survivors with dextro-TGA (d-TGA) after ASO should have
noninvasive ischemia testing every 3 to 5 years. (Level of
Evidence: C)
The coronary artery course plays an important role in the
surgical repair of d-TGA. The most common anatomic
arrangement occurs in nearly two thirds of patients, with the
left coronary artery arising from the anterior facing sinus and
the right coronary artery from the posterior facing sinus.
Sixteen percent of patients with d-TGA have a circumflex
that arises from the right coronary artery, and the remaining
patients have inverted coronary artery variants, single coronary arteries, or intramural coronary arteries (452). Damage
to the sinus node coronary artery, whether during surgery or
during balloon septostomy, has been implicated in the occurrence of atrial arrhythmias and sinus node dysfunction after
repair.
After great artery translocation and transfer of coronary
arteries, early and late postoperative loss of coronary perfusion may occur due to causes such as anatomic torsion,
extrinsic compression, focal or diffuse fibrocellular intimal
thickening, and small-caliber distal coronary arteries with
functional decrease in coronary flow reserve (453– 455).
Survival free of coronary events has been reported as 93%
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and 88% at 1 and 15 years, respectively, with many reports
associating coronary events with increased mortality (455).
8.4.3. Clinical Features and Evaluation After Arterial
Switch Operation
No single ischemia provocation test has been shown to be
both sufficiently sensitive and specific to screen for coronary
flow abnormalities after a switch repair of d-TGA, and
combinations of testing, including echocardiography, nuclear
scintigraphy, and exercise testing, have been suggested to
improve sensitivity and specificity (455). Given the emergence of an adult population of survivors with d-TGA after
ASO, with undefined future course and morbidity, the present
writing committee recommends episodic noninvasive ischemia provocation testing every 3 to 5 years. Positive results
should be pursued by invasive catheterization with measurement of coronary flow reserve and intravascular ultrasound
when appropriate.
Intervention
Successful surgical, balloon angioplasty, and catheter-based
stent revascularizations have been reported after ASO repair
for d-TGA (456 – 458). We recommend that obstructive
lesions with associated ischemia or flow abnormalities undergo revascularization appropriate to the lesion.
8.5. Recommendations for Congenital
Coronary Anomalies of Ectopic Arterial Origin
CLASS I
1. The evaluation of individuals who have survived unexplained
aborted sudden cardiac death or with unexplained lifethreatening arrhythmia, coronary ischemic symptoms, or LV
dysfunction should include assessment of coronary artery
origins and course. (Level of Evidence: B)
2. CT or magnetic resonance angiography is useful as the initial
screening method in centers with expertise in such imaging.
3. Surgical coronary revascularization should be performed in patients with any of the following indications:
a. Anomalous left main coronary artery coursing between the
aorta and pulmonary artery. (Level of Evidence: B)
b. Documented coronary ischemia due to coronary compression
(when coursing between the great arteries or in intramural
fashion). (Level of Evidence: B)
c. Anomalous origin of the right coronary artery between aorta
and pulmonary artery with evidence of ischemia. (Level of
Evidence: B)
CLASS IIa
1. Surgical coronary revascularization can be beneficial in the
setting of documented vascular wall hypoplasia, coronary compression, or documented obstruction to coronary flow, regardless
of inability to document coronary ischemia. (Level of Evidence: C)
2. Delineation of potential mechanisms of flow restriction via
intravascular ultrasound can be beneficial in patients with
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documented anomalous coronary artery origin from the opposite sinus. (Level of Evidence: C)
CLASS IIb
1. Surgical coronary revascularization may be reasonable in patients with anomalous left anterior descending coronary artery
coursing between the aorta and pulmonary artery. (Level of
Evidence: C)
8.5.1. Definition, Associated Lesions, and Clinical
Course
Congenital anomalous origin of the coronary arteries may
occur in 1% to 1.2% of all coronary angiograms performed,
with 0.5% of them having the highest-risk lesions of the left
main or left anterior descending branch artery arising from
the opposite sinus of Valsalva (459). Coronary anomalies
account for approximately 15% of sudden cardiac deaths in
athletes (potentially due to torsion or slitlike compression of
the proximal coronary artery, exercise-induced compression,
vasospasm, or ischemic or scar-induced ventricular arrhythmia) (460,461). In 80% of autopsies in athletes with sudden
cardiac death and anomalous coronary artery origins, the
affected coronary artery coursed between the aorta and the
pulmonary artery (461,462).
8.5.2. Clinical Features and Evaluation of the
Unoperated Patient
8.5.2.1. Preintervention Evaluation
Patients may present with aborted sudden death, chest pain,
arrhythmia, LV dysfunction, or exercise-induced presyncope
or syncope. Recently, clinical ischemia provocation screening
has been suggested to reduce the global risk of sudden cardiac
events in high-risk competitive sports populations; however,
individual case reports in which such testing failed to reveal
at-risk abnormalities in athletes who later succumbed to
sudden coronary death due to anomalous coronary origins
highlight the need for further improvement in screening
strategies. Visualization of coronary artery course is achieved
by CT or MRI (463,464).
To date, anatomic delineation of a coronary artery course
between the aorta and pulmonary artery in a young (less than
age 50 years) person remains the greatest known risk for an
adverse event, with or without symptoms (319). Catheterbased measurement of flow reserve and coronary intravascular ultrasonography have the potential to delineate mechanisms of potential flow obstruction and are increasingly part
of diagnostic and therapeutic algorithms (459,465). At present, especially in those younger than age 50 years, this
writing committee recommends coronary CT or MRI for
more definitive definition of coronary course in persons
suspected of having anomalous coronary origins.
8.5.3.1. Surgical and Catheterization-Based Intervention
Both surgical revascularization (eg, marsupialization, coronary bypass, or coronary reimplantation) and limited cases of
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transcatheter stenting have been reported to have short-term
stability, without long-term follow-up (466). Coronary bypass grafting is increasingly viewed as a less favorable
approach in light of the potential for competitive flow (467).
Surgical revascularization in centers with expertise in the
surgical management of anomalous coronary arteries is suggested (319,462,468). Surgical repair is indicated when the
left coronary arteries arise from the opposite sinus and course
between the aorta and pulmonary artery. Surgical repair is
also indicated when the right coronary artery arises from the
opposite sinus or courses between the aorta and pulmonary
artery in association with concomitant symptoms, or when
there is evidence of otherwise unexplained inducible ischemia in these territories (469,470). When the patient has an
anomalous right coronary artery and no evidence of ischemia,
management is more controversial. A conservative approach
in this situation may be reasonable. Given the not uncommon
occurrence of anomalous coronary origins and their potential
for a devastating outcome, it is imperative that improved data
are generated regarding diagnosis, follow-up, and longerterm outcomes.
8.6. Recommendations for Anomalous Left
Coronary Artery From the Pulmonary Artery
CLASS I
1. In patients with an anomalous left coronary artery from the
pulmonary artery (ALCAPA), reconstruction of a dual coronary
artery supply should be performed. The surgery should be performed by surgeons with training and expertise in CHD at centers
with expertise in the management of anomalous coronary artery
origins. (Level of Evidence: C)
2. For adult survivors of ALCAPA repair, clinical evaluation with
echocardiography and noninvasive stress testing is indicated
every 3 to 5 years. (Level of Evidence: C)
8.6.1. Definition and Associated Lesions and
Clinical Course
ALCAPA is relatively rare, occurring in 1 in 300 000 live
births. Improved operative revascularization, ensuing myocardial remodeling, and improved medical management of
heart failure have increased survival after ALCAPA repair.
Similarly, these improvements in care and the recognition of
hibernating myocardium have increased the survival of adults
with ALCAPA (471). Most adults survive because of collaterals from the right coronary artery, but they may have
myocardial ischemia, LV dysfunction, mitral regurgitation, or
ventricular arrhythmia. The transition from single to dual
coronary surgical repair was performed first by a Takeuchi
intrapulmonary arterial baffle; since then, coronary artery
reimplantation or coronary bypass grafting has been used for
repair (472).
Suprapulmonary arterial stenosis, baffle leaks, and baffle
stenosis have all been reported after Takeuchi baffle repair.
Late postrepair AR and residual significant mitral valve
disease have both been reported. Chest pain, nuclear and
positron emission tomography myocardial perfusion abnormalities, and decreased exercise performance have been noted
after dual coronary artery repair and may correlate with residual
patchy myocardial fibrosis from preoperative ischemia, as well
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as from residual proximal graft obstruction (473– 476). Proximal, midvessel, and even distal coronary artery obstructions,
with coronary flow reserve abnormalities, have been noted
and treated with intracoronary balloon dilations, stenting,
radiotherapy, and reoperation (477– 480). There has been no
consistent correlation between long-term outcome and late
symptoms, noninvasive ischemia and blood flow abnormality
testing, residual coronary anatomic or flow abnormalities, or
late interventions.
If patients present in adulthood with decreased systolic
function and previously unrecognized ALCAPA, the present
writing committee suggests surgical myocardial revascularization to achieve a dual coronary supply, regardless of
myocardial viability testing, given the lack of current data to
correlate such testing with outcomes. Given the increasing
awareness of residual coronary artery, myocardial, and valvular abnormalities, the present writing committee suggests
surveillance with echocardiography and noninvasive ischemia provocation testing every 3 to 5 years for patients after
repair of ALCAPA.
Intervention
Surgical repair by either arterial bypass or, more commonly,
reimplantation of the anomalous coronary into the aorta is
indicated because of the risk of sudden cardiac death
(481,482). If ischemia is demonstrated in patients after repair
of ALCAPA with either concomitant symptomatology or
echocardiographic changes, the present writing committee
recommends invasive catheterization with planned intervention determined by clinical findings.
Arteriovenous Fistula
CLASS I
1. If a continuous murmur is present, its origin should be defined
either by echocardiography, MRI, CT angiography, or cardiac
catheterization. (Level of Evidence: C)
2. A large CAVF, regardless of symptomatology, should be closed
via either a transcatheter or surgical route after delineation of
its course and its potential to fully obliterate the fistula. (Level
of Evidence: C)
3. A small to moderate CAVF in the presence of documented
myocardial ischemia, arrhythmia, otherwise unexplained ventricular systolic or diastolic dysfunction or enlargement, or
endarteritis should be closed via either a transcatheter or
surgical approach after delineation of its course and its potential to fully obliterate the fistula. (Level of Evidence: C)
CLASS IIa
1. Clinical follow-up with echocardiography every 3 to 5 years can be
useful for patients with small, asymptomatic CAVF to exclude
development of symptoms or arrhythmias or progression of size or
chamber enlargement that might alter management. (Level of
Evidence: C)
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CLASS III
1. Patients with small, asymptomatic CAVF should not undergo
closure of CAVF. (Level of Evidence: C)
8.8.1. Definition
The development of epicardial and intramural coronary arteries has recently become better understood, with increasing
awareness of the vasculogenesis involved in regulation of cell
fate, cell migration, transition, and patterning (483). Nonetheless, the present writing committee still has a very primitive understanding of CAVF occurrence and long-term outcomes. The incidence is 0.1% to 0.2% of all catheterized
patients, second in frequency of all coronary artery congenital
abnormalities to anomalous origin of the coronary arteries
(484). Fistulas arise from either or both coronary arteries,
with drainage more typically to the right atrium, right
ventricle, or right atrial–superior vena cava junction, and
occasionally to the coronary sinus or left side of the heart.
Although the potential for associated myocardial ischemia
and infarction, endarteritis, dissection, and rupture has been
documented, there are few data associating occurrence, shunt
properties, anatomic features, and outcomes. Increasing fistula and shunt size may be associated with increased abnormalities of coronary flow and complications that include
chest pain, decreased life expectancy, and risk of rupture
(485). Small fistulas may slowly increase in size with
advancing age and changes in systemic blood pressure and
aortic compliance. Periodic clinical evaluation with imaging
such as echocardiography to assess both the size of the
fistula and ventricular function is reasonable. Sometimes,
small fistulas are detected as an incidental finding on
echocardiography.
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tions. Surgical closure of audible CAVF with appropriate
anatomy is recommended in all large CAVFs and in small to
moderate CAVFs in the presence of symptoms of myocardial
ischemia, threatening arrhythmia, unexplained ventricular
dysfunction, or left atrial hypertension.
8.9.2. Catheterization-Based Intervention
Numerous reports of transcatheter closure with coils or
detachable devices describe near or complete CAVF occlusion in attempted closure procedures (486). Criteria for
transcatheter closure of CAVF are similar to those used for
surgical closure of CAVF. Transcatheter closure of CAVF
should be performed only in centers with particular expertise
in such intervention.
8.9.3. Preintervention Evaluation After Surgical or
Catheterization-Based Repair
Patients with CAVF, even after repair, may still have large,
patulous epicardial conduits. Intermediate- and longer-term
follow-up of these thin-walled, ectatic coronary arteries after
either surgical or transcatheter repair appears mandated.
9. Pulmonary Hypertension/
Eisenmenger Physiology
9.1. Definition
PAH, a progressive increase in PVR, can lead to subpulmonary ventricular failure and death. PAH can frequently be
related to pulmonary venous hypertension (most commonly
due to left AV valve disorders, volume excess, or systemic
ventricular end-diastolic pressure elevation) and can be classified as World Health Organization PAH class II (due to “left
heart disease”) with therapies guided toward improving these
causes. Within this section, however, the present writing
committee will primarily focus on disorders in which PAH is
due to other abnormalities and is generally hemodynamically
defined as a mean pulmonary artery pressure greater than
25 mm Hg at rest or greater than 30 mm Hg with exercise,
pulmonary capillary wedge pressure less than or equal to
15 mm Hg, and PVR greater than 3 mm Hg per L per min per
m2. Idiopathic PAH or PAH of unclear relationship to other
diseases is typically a diagnosis of exclusion within the
World Health Organization (group I PAH), according to a
classification scheme similar to the World Health Organization clinical classification (424). Additional “triggers” for the
development of PAH may be present at increased rates in
patients with CHD compared with nonaffected individuals.
These triggers include but are not restricted to parenchymal
and restrictive lung disease, hypoventilation, high altitude,
genetic predispositions such as Down syndrome, and left
atrial or pulmonary venous hypertension or obstruction.
Particular CHD-related PAH (CHD-PAH) occurs in a number
of different scenarios, including the following:
Surgical fistula closure can be successful if CAVF is well
defined and clear surgical access is believed to be technically
achievable. Recurrence may be a problem if anatomic definition is suboptimal, and surgery may be difficult to perform
owing to poorly visualized, typically distal fistulous connec-
a. “Dynamic” PAH related to high shunt flow that responds to
reduction of the shunt
b. Immediate postoperative or “reactive” PAH
c. Late, postoperative PAH
8.8.3. Preintervention Evaluation
Transcatheter delineation of the CAVF course and access to
distal drainage should be performed in all patients with
audible continuous murmur and recognition of CAVF.
Strategies
CLASS I
operations for management of patients with CAVF. (Level of
Evidence: C)
2. Transcatheter closure of CAVF should be performed only in
centers with expertise in such procedures. (Level of Evidence: C)
3. Transcatheter delineation of CAVF course and access to distal
drainage should be performed in all patients with audible
continuous murmur and recognition of CAVF. (Level of
Evidence: C)
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d. Secondary to lesions that cause pulmonary venous
hypertension
e. Shunt reversal (eg, Eisenmenger physiology).
These guidelines will largely focus on the management of
dynamic PAH and Eisenmenger physiology. Recently, CHDPAH has been recognized to have potentially differing
pathogenetic mechanisms, therapeutic goals, treatment plans,
and outcomes compared with idiopathic PAH. Hence, during
the Third World Symposium on Pulmonary Arterial Hypertension, CHD-PAH was categorized as a unique entity within
the more global PAH categorization (group I) (424). Subcategories were also designated on the basis of the complexity
and size of the defect, its association with additional extracardiac anomalies, and the status of anatomic repair. More
recently, an expansion of the subcategorization has been
proposed that allows for further classification based on
anatomy (defects above and below the tricuspid valve, as well
as clarification of specific types of complex disease), the
presence of myocardial restriction (as evidenced by equalization of pressure between chambers), and direction of shunt
(left to right, right to left, or balanced) (487).
Congenital heart defects that can lead to PAH are numerous. Unrepaired, large systemic–to–pulmonary artery (left-toright) shunts, seen in ASD, VSD, AVSD, and PDA, account
for most cases of PAH. However, complex lesions such as
partial or total anomalous pulmonary venous return, unrepaired or palliated conoventricular defects including truncus
arteriosus, or transposition of the great arteries, and singleventricle variants can also result in the development of PAH.
Other causes of PAH may include pulmonary vein stenosis
and pulmonary veno-occlusive disease. Over time, with
severe vascular changes accompanying a persistent large
anatomic shunt, a bidirectional or predominantly right-to-left
shunt accompanied with oxygen-unresponsive hypoxemia
can ensue, identified as Eisenmenger physiology (488). In
patients with large left-to-right shunts or unrepaired complex
congenital heart defects, PAH can develop as early as the first
decade of life; however, in patients with medium-sized or
larger ASDs, Eisenmenger syndrome typically appears later
in life and may be recognized first during the changes in
hemodynamic loading that occur with pregnancy. Whether
additional triggers of PAH other than intravascular shunts are
required for development of Eisenmenger syndrome remains
debatable.
9.2.1. Dynamic Congenital Heart Disease–Pulmonary
Arterial Hypertension
The development of CHD-PAH associated with systemic–to–
pulmonary artery shunts is dependent on both the type and
size of the underlying anatomic defect, as well as the
magnitude of shunt flow (shear stress and structural changes
lead to intravascular and matrix-dependent inflammatory
mediator release and changes). Pulmonary vascular histology
resembles that described in idiopathic PAH, with medial
thickening and plexiform lesions in severe cases (489). In
fact, the hypertensive pulmonary arteriopathy, vasoconstric-
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tion, and marked increase in pulmonary ventricular afterload
of CHDs was the first model used to assist in the understanding of the vascular and cardiac changes associated with
idiopathic PAH (490).
Individuals with an unrepaired truncus arteriosus are at
very high risk of developing PAH, whereas those with VSDs
and ASDs are at moderate and relatively low risk, respectively. Whether the variation in these risks is related to shunt
flow or to an underlying genetic predisposition is unknown.
The nature of the anatomic abnormality also determines the
age at presentation. Patients with AVSD, truncus arteriosus,
transposition of the great vessels, large PDA, and VSD
present earliest. Most patients with CHD-PAH have a better
prognosis than those with idiopathic PAH.
9.2.2. Immediate Postoperative Congenital Heart
Disease–Pulmonary Arterial Hypertension
More commonly reported in children than in ACHD patients,
pulmonary vascular reactivity due to perioperative endothelial cell injury may be heightened in the immediate postoperative phase of cardiopulmonary surgery. This can precipitate marked increases in PVR, leading to acute right-sided
heart failure with the attendant decrease in cardiac output,
systemic hypotension, metabolic acidemia, and right-sided
heart ischemia. In addition, airway resistance increases in
relation to peribronchial edema and bronchoconstriction, gas
exchange suffers, and alveolar edema and cardiovascular
collapse may occur in the final stages. Immediate perioperative acute increases in pulmonary resistance that precipitate a
“crisis” tend to occur in individuals with more “dynamic” and
less “fixed” resistance.
9.2.3. Late Postoperative Congenital Heart
Typically, late postoperative CHD-PAH is attributed to the
timing of anatomic shunt repair that is too late, miscalculation
of the likelihood of surgical repair, or the long-standing
effects of stable but elevated RV afterload that leads to
recalcitrant vascular remodeling. However, when one diagnoses late postoperative CHD-PAH, the multiple additional
non–shunt-mediated risk factors (including LV hypertrophy
and diastolic dysfunction, valvular abnormalities, pulmonary
venous hypertension or obstruction, restrictive or hypoventilatory lung disease, chronic liver disease, and toxin use) that
contribute to PAH must be ruled out to target appropriate
therapy.
9.2.4. Normal to Mildly Abnormal Pulmonary
Vascular Resistance States
Individuals with tricuspid atresia or similar single-ventricle
physiologies who undergo surgical creation of cavopulmonary anastomoses (Glenn shunt and its variants or Fontan
palliation and its variants) have pulmonary circulation that
connects directly to the systemic venous circulation, lacks
normal pulsatile flow, and hence depends on low PVR for
survival. Because the subpulmonary ventricle has been bypassed, and circulation of blood relies solely on systemic
ventricular function, any increase in pulmonary vascular
impedance can interfere with LV filling. Thus, maintenance
of a low PVR is critically important. Clinical course and
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further management strategies are discussed elsewhere in
these guidelines.
9.2.5. Eisenmenger Physiology
Similar to patients with idiopathic PAH, dyspnea on exertion
is the most common presenting symptom of patients with
Eisenmenger physiology, followed by palpitation, edema,
volume retention, hemoptysis, syncope, and progressive cyanosis (488). Increasingly through the third decade of life,
morbidity becomes substantial in this patient population.
Eisenmenger patients have additional complications compared with patients with idiopathic or other forms of secondary PAH. Hypoxemia-related secondary erythrocytosis leads
to increased blood viscosity and intravascular sludging worsened by associated iron deficiency. Organ damage may result,
predominantly noted in cerebrovascular changes from sludging, stroke, and alterations in renal function. Hyperpnea may
also occur. Right-sided volume overload and elevated systemic venous pressure may lead to changes in hepatic
function. Hyperuricemia may result in gout. Hemoptysis
remains a potential threat to life when severe; the occurrence
of other clinical bleeding disorders is a matter of debate.
Concomitant congenital skeletal abnormalities and restrictive
lung disease may worsen hypoxemia. True cardiac ischemic
chest pain due to RV ischemia, coronary artery compression
by a dilated pulmonary artery, or atherosclerosis may occur
with exertion or at rest. Progressive subpulmonary ventricular
failure and premature death are the rule in adults with
Eisenmenger syndrome, with immediate causes of death
including pulmonary ventricular failure, severe hemoptysis
from bronchial artery rupture or pulmonary infarction, complications during pregnancy, and cerebral vascular events,
including occlusive strokes, systemic paradoxical embolization, and brain abscesses (264,491,492). Death during noncardiac surgery also occurs. Poor functional class is a significant predictor of mortality for Eisenmenger patients, as are
serological evidence of low systemic organ perfusion, worsened hypoxemia, and LV systemic dysfunction (493).
Below are the problems and pitfalls in the diagnosis and
management of ACHD-related PAH.
●
●
●
●
●
Patients with severe ACHD-related PAH do not have loud
murmurs on auscultation because the RV pressure is
similar to the LV pressure. In such patients, associated
anomalies such as PS should be excluded.
All potential triggers for PAH, including noncongenital
cardiac triggers, should be sought. Therapies for noncongenital triggers should be maximized.
Diagnosis and therapy hinge on accurate and definitive
cardiac catheterization. Additional imaging modalities are
often of assistance.
Oxygen-responsive hypoxemia may occur and should be
treated.
Pregnancy is contraindicated in women with CHD-PAH.
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the Patient With Congenital Heart
CLASS I
1. Care of adult patients with CHD-related PAH should be performed in centers that have shared expertise and training in
both ACHD and PAH. (Level of Evidence: C)
2. The evaluation of all ACHD patients with suspected PAH should
include noninvasive assessment of cardiovascular anatomy and
potential shunting, as detailed below:
a. Pulse oximetry, with and without administration of supplemental oxygen, as appropriate. (Level of Evidence: C)
b. Chest x-ray. (Level of Evidence: C)
c. ECG. (Level of Evidence: C)
d. Diagnostic cardiovascular imaging via TTE, TEE, MRI, or CT
as appropriate. (Level of Evidence: C)
e. Complete blood count and nuclear lung scintigraphy. (Level
of Evidence: C)
3. If PAH is identified but its causes are not fully recognized,
additional testing should include the following:
a. Pulmonary function tests with volumes and diffusion capacity (diffusing capacity of the lung for carbon monoxide).
b. Pulmonary embolism–protocol CT with parenchymal lung
windows. (Level of Evidence: C)
c. Additional testing as appropriate to rule out contributing
causes of PAH. (Level of Evidence: C)
d. Cardiac catheterization at least once, with potential for
vasodilator testing or anatomic intervention, at a center
with expertise in catheterization, PAH, and management of
CHD-PAH. (Level of Evidence: C)
CLASS IIa
1. It is reasonable to include a 6-minute walk test or similar
nonmaximal cardiopulmonary exercise test as part of the functional assessment of patients with CAD-PAH. (Level of
Evidence: C)
9.4.1. Dynamic Congenital Heart Disease–Pulmonary
Arterial Hypertension
Surgical experience has suggested that the changes that occur
with shunt-mediated PAH are reversible, provided the surgery is
performed before pulmonary vascular changes are “fixed.”
Catheterization-based calculations of pulmonary blood flow
(Qp) with isolation of all sources of Qp, individualized measurements of resistance in isolated lung segments, and direct measurement of pulmonary venous pressure are typically used to
assess PAH reversibility and the likelihood of surgical success.
Acute administration of inhaled (nitric oxide) or intravenously
administered (prostacyclin) pulmonary vascular agents is frequently used in such investigations to assess for acute reactivity
and potential to subsequently (with surgical or pharmacological
intervention) mimic achieved lowering of PVR and, when
appropriate to anatomy and physiology, similar lowering of
pulmonary artery pressures. However, studies have not been
performed that firmly establish the pressures, flows, and resistances that define such reactivity. Many centers use a preoperative PVR less than 10 to 14 Wood units and a pulmonary/
systemic resistance ratio less than or equal to two thirds as
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thresholds associated with better surgical outcomes (494,495),
but individual institutions vary with regard to these thresholds,
often modifying them according to the specific anatomic lesion
and responses to acute vasodilator testing. All additional potential causes of PAH in this population must be excluded, because
therapeutic strategies may differ significantly.
An important concept with regard to predicting the outcome
of surgery, especially in borderline cases, is that PVR is flow
dependent. Thus, it should not be assumed that PVR will necessarily fall in proportion to the reduction in shunt and pulmonary blood
flow. High shunt flows can recruit pulmonary vasculature
(thereby reducing PVR). With the elimination of shunt, these
additionally recruited vascular beds may “de-recruit,” no longer
accommodating the increased blood flow, and PVR (and hence
pulmonary artery pressure) may fall less than would be predicted
on the basis of the reduction of blood flow alone.
2.
3.
4.
9.4.2. Eisenmenger Physiology
Diagnosis and evaluation of Eisenmenger physiology require
a detailed history to look for all possible PAH triggers and a
thorough understanding of current and past anatomy, as well
as knowledge of all past surgical and medical interventions.
Documentation of the size and direction of intracardiac or
intravascular shunts present at the atrial, ventricular, or great
arterial level is required, as is a precise documentation of the
extent of the severity of pulmonary arteriolar hypertension. A
suggested basic evaluation of adults with presumed Eisenmenger physiology includes assessment of anatomy, degree
of PAH, ventricular function, and both the presence and
magnitude of secondary complications. Evaluation includes
finger and toe oximetry, chest x-ray, ECG, pulmonary function tests with volumes and CO2 diffusion, anatomic lesion
definition (by use of noninvasive or invasive modalities, as
necessary), pulmonary embolism–protocol CT with “chest
windows,” complete blood count with indices, ferritin and
iron studies, and renal and hepatic function tests, along with
6-minute walk testing (with or without oximetry or cardiopulmonary testing). Other tests may be performed as indicated if
the diagnosis is less certain: hepatitis B and C panels;
cryoglobulins; human immunodeficiency virus serologies;
procoagulant evaluation; and rheumatologic serologies (including scleroderma, mixed connective tissue disorder, and
systemic lupus erythematosus). A complete cardiac catheterization, with potential for vasodilator testing or anatomic
interventions, should be performed, but only at a center with
expertise in the diagnosis and management of ACHD and
adult patients with PAH. Open lung biopsy presently has a
very limited role in patient diagnosis or management.
9.5.1. Recommendations for Medical Therapy of
Eisenmenger Physiology
CLASS I
1. It is recommended that patients with Eisenmenger syndrome
avoid the following activities or exposures, which carry increased
risks:
a. Pregnancy. (Level of Evidence: B)
b. Dehydration. (Level of Evidence: C)
5.
6.
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c. Moderate and severe strenuous exercise, particularly isometric exercise. (Level of Evidence: C)
d. Acute exposure to excessive heat (eg, hot tub or sauna).
e. Chronic high-altitude exposure, because this causes further
reduction in oxygen saturation and increased risk of
altitude-related cardiopulmonary complications (particularly
at an elevation greater than 5000 feet above sea level).
f. Iron deficiency. (Level of Evidence: B)
Patients with Eisenmenger syndrome should seek prompt therapy
for arrhythmias and infections. (Level of Evidence: C)
Patients with Eisenmenger syndrome should have hemoglobin,
platelet count, iron stores, creatinine, and uric acid assessed at
least yearly. (Level of Evidence: C)
Patients with Eisenmenger syndrome should have assessment of
digital oximetry, both with and without supplemental oxygen
therapy, at least yearly. The presence of oxygen-responsive hypoxemia should be investigated further. (Level of Evidence: C)
Exclusion of air bubbles in intravenous tubing is recommended as
essential during treatment of adults with Eisenmenger syndrome.
Patients with Eisenmenger syndrome should undergo noncardiac surgery and cardiac catheterization only in centers with
expertise in the care of such patients. In emergent or urgent
situations in which transportation is not feasible, consultation
with designated caregivers in centers with expertise in the
care of patients with Eisenmenger syndrome should be performed and sustained throughout care. (Level of Evidence: C)
CLASS IIa
1. All medications given to patients with Eisenmenger physiology
should undergo rigorous review for the potential to change systemic blood pressure, loading conditions, intravascular shunting,
and renal or hepatic flow or function. (Level of Evidence: C)
2. Pulmonary vasodilator therapy can be beneficial for patients
with Eisenmenger physiology because of the potential for
improved quality of life. (Level of Evidence: C)
An emphasis on patient education and avoidance of destabilizing situations and volume shifts that result in alteration of
catecholamines, extreme fatigue, high-altitude exposure, contact with cigarette smoke, changes in renal or hepatic function, or use of medications that may modulate flow to or
function of these organs is advocated. Avoidance of pregnancy and iron deficiency and prompt therapy for arrhythmia
or infection are recommended. A concept of team planning
for all procedures is mandated because of the potential for
morbid and mortal outcomes of even the simplest of interventions for any ailment. The optimal type and mode of
anesthetic administration should be individualized by experts
in the care of persons with Eisenmenger physiology. Risk of
right-to-left embolization warrants avoidance of bubbles, and
consideration of the use of air filters on all venous catheters
still tends to be advocated, although controversy exists
regarding the relative benefit obtained compared with meticulous guarding of all intravenous administration systems.
Erythrocytosis tends to remain stable in cyanotic patients,
and alterations in serum hemoglobin tend to be indicative of
intercurrent issues that require their own correction (refer to
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Section 7.6.5, Cyanosis). Therapeutic phlebotomy or erythropheresis has a very limited role in patient management and
should only be performed if the hemoglobin is more than 20 g
per dL and the hematocrit is greater than 65% with associated
symptoms of hyperviscosity and no evidence of dehydration.
Iron deficiency anemia should be avoided, given the suggestion that iron-deficient red blood cells with less oxygencarrying capacity and less potential for deformation may lead
to increased incidence of strokes and vascular complication
(184). Achievement of replete iron stores, combined with
optimal serum hemoglobin and blood viscosity, is the optimal
approach (496,497).
Therapies for adults with CHD-PAH have been limited and
have included oxygen, warfarin, diuretics, calcium channel
blockers, long-term continuous intravenous epoprostenol,
oral prostacyclin analogues, oral endothelin antagonists, oral
phosphodiesterase inhibition, and lung or lung/heart transplantation. The benefit of supplemental oxygen administration is a matter of debate given the conflict between recognized concomitant oxygen-responsive and -unresponsive
components to hypoxemia in many patients and the lack of
sufficient trial data to assess benefit (498,499). The use of
oxygen therapy may help if there is a component of oxygenresponsive vasoconstriction. Despite few data, calcium channel blockers have shown limited results or have worsened
well-being.
Transplantation has offered a limited survival benefit for
this patient population, given the unpredictability of
transplant-free survival and significantly higher perioperative
mortality in this cohort of patients, although individual
outcomes may warrant individual considerations (500).
Newer theoretical procedures such as pulmonary artery banding have not been studied adequately. Symptomatic adults
with Eisenmenger physiology should be counseled about the
results of randomized, controlled trials of vasomodulator
therapies for PAH, with particular emphasis on those trials
performed specifically in adults with Eisenmenger
physiology.
Anticoagulation with warfarin is widely used in patients
with PAH on the basis of observational studies, in the absence
of randomized, controlled trials supporting benefit or evaluating risk. In adults with Eisenmenger physiology, recognition of in vivo pulmonary thrombus (350), contrasted with
reports of in vitro abnormalities of coagulation in persons
with cyanosis (501), has led to debate over the potential
benefit of oral anticoagulant therapy, particularly with the
concomitant bleeding diathesis inherent in the condition. In
patients with active or chronic hemoptysis, anticoagulation is
contraindicated.
The theoretical possibility of worsening of right-to-left
shunting raises questions about the safety of using pulmonary
artery modulating therapies that also have systemic vasodilator potential. Nevertheless, some of these agents (intravenous prostacyclin and oral sildenafil) have yielded improvements in hemodynamics, exercise tolerance, and/or systemic
arterial oxygen saturation in limited case studies (501–507).
The potential for significant adverse reaction due to these
agents has been recognized.
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Randomized, controlled trials showing a benefit of many of
these agents for patients with PAH have included small
numbers of patients with Eisenmenger physiology; however,
the utility of these trials in guiding therapy for patients with
Eisenmenger physiology is limited, given that the trials were
not designed to test hypotheses specifically in such patients
and were not randomized to therapy within an Eisenmenger
subgroup (505–509). Results of the first randomized, controlled trial of medical therapy in adults with Eisenmenger
syndrome due to predominantly either ASD or VSD, with
oral bosentan compared with placebo (BREATHE-5, the
Bosentan Randomized trial of Endothelin Antagonist
THErapy-5), documented therapeutic safety and improvement in symptomatic measures, 6-minute walk distance, and
hemodynamics after short-term (4 months) use of bosentan
(510). The use of these agents should be restricted to centers
with demonstrated expertise in CHD-PAH.
CLASS I
1. Women with severe CHD-PAH, especially those with Eisenmenger physiology, and their partners should be counseled
about the absolute avoidance of pregnancy in view of the high
risk of maternal death, and they should be educated regarding
safe and appropriate methods of contraception. (Level of
Evidence: B)
2. Women with CHD-PAH who become pregnant should:
a. Receive individualized counseling from cardiovascular and
obstetric caregivers collaborating in care and with expertise
in management of CHD-PAH. (Level of Evidence: C)
b. Undergo the earliest possible pregnancy termination after
such counseling. (Level of Evidence: C)
3. Surgical sterilization carries some operative risk for women with
CHD-PAH but is a safer option than pregnancy. In view of
advances in minimally invasive techniques, the risks and benefits
of sterilization modalities should be discussed with an obstetrician experienced in management of high-risk patients, as well as
with a cardiac anesthesiologist. (Level of Evidence: C)
CLASS IIb
1. Pregnancy termination in the last 2 trimesters of pregnancy poses
a high risk to the mother. It may be reasonable, however, after the
risks of termination are balanced against the risks of continuation
of the pregnancy. (Level of Evidence: C)
CLASS III
1. Pregnancy in women with CHD-PAH, especially those with
Eisenmenger physiology, is not recommended and should be
absolutely avoided in view of the high risk of maternal mortality. (Level of Evidence: B)
2. The use of single-barrier contraception alone in women with
CHD-PAH is not recommended owing to the frequency of
failure. (Level of Evidence: C)
3. Estrogen-containing contraceptives should be avoided. (Level
of Evidence: C)
9.6.2. Pregnancy
Pregnancy carries particular risk for individuals with CHDPAH, especially those with Eisenmenger physiology, with
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mostly older case series suggesting maternal mortality in the
latter group of up to 50% and similarly high levels of fetal
loss. Even after a successful pregnancy, maternal mortality
may be particularly increased in the first several days after
delivery (511). Termination of pregnancy, particularly in its
mid and later phases, with its concomitant volume and
hormonal fluctuations also carries a high maternal risk.
Termination in the first trimester is the safer option. Recent
case series have reported individual ability of the adult with
Eisenmenger physiology to survive pregnancy with concomitant use of modern vasomodulatory agents. It remains
unclear whether the potential for pregnancy survival is any
different in persons with Eisenmenger syndrome than in
adults with PAH without intravascular shunting, and because
of the lack of predictability of outcome, pregnancy remains
absolutely contraindicated for these patients. Counseled contraception is strongly advised, although the particular method
of such is a matter of debate. Maternal sterilization carries a
defined operative risk of mortality, and endoscopic sterilization may be the safer option. Hormonal therapies increase the
preexisting potential for thrombosis, although progesteroneonly preparations may be considered. Barrier methods have
an increased rate of failure, and intrauterine device implantation carries anecdotally increased infection risk, although
the highest risk is for local infection in multipartner couples.
There is no consensus on comparative contraceptive risks;
therefore, the patient should discuss options with a high-risk
obstetrician (maternal fetal medicine specialist).
9.6.3. Other Interventions
There are limited case data on surgical or transcatheter
attempts to limit pulmonary blood flow so as to potentially
remodel the pulmonary vascular bed and alter PVR (509).
9.6.4. Recommendations for Follow-Up
CLASS I
1. Patients with CHD-related PAH should:
a. Have coordinated care under the supervision of a trained
CHD and PAH provider and be seen by such individuals at
least yearly. (Level of Evidence: C)
b. Have yearly comprehensive evaluation of functional capacity and assessment of secondary complications. (Level of
Evidence: C)
c. Discuss all medication changes or planned interventions
with their CHD-related PAH caregiver. (Level of Evidence: C)
e73
less than 50% of its diameter, and RV hypertrophy. There can
be varying levels of severity, and a morphological spectrum
exists. The most extreme form is pulmonary atresia with
VSD, which is not discussed here. The single and large VSD
is usually in the subaortic position. The pulmonary valve is
often small and stenotic. Pulmonary artery anomalies are
frequent and include hypoplasia and stenosis. Pulmonary
artery hypoplasia may involve the pulmonary trunk or the
branch pulmonary arteries. Pulmonary artery stenosis at any
of these levels is common. Occasionally, the pulmonary
artery is absent, most often on the left side. Associated
anomalies can include a secundum ASD, AVSD (usually in a
patient with Down syndrome), and a right aortic arch in
approximately 25% of cases. Coronary artery anomalies also
occur, most commonly with a left anterior descending coronary artery arising from the right coronary artery and crossing
the RVOT (approximately 3% of cases).
10.2.1. Presentation as an Unoperated Patient
Presentation as an unoperated patient is now rare in countries
with access to modern cardiac surgery, but it can be seen in
immigrants living in the United States and in patients who
live in countries without access to surgical repair. An occasional patient is seen with relatively mild pulmonary obstruction and mild cyanosis (the so-called pink tetralogy), in which
case the diagnosis may not be made until adult life. It is
usually mistaken for a small VSD because of the loud
precordial murmur. Other patients who have not had previous
access to health care and who have severe RV outflow
obstruction but abundant aorticopulmonary collaterals may
present late with cyanosis and loud continuous murmurs over
the thorax. TTE and cardiac catheterization may confirm the
diagnosis. The course and anatomy of the epicardial coronary
arteries should be defined before definitive repair.
10.2.2. Postsurgical Presentation
Almost all patients with repairable forms of tetralogy of
Fallot in the United States will have had reparative surgery.
They are usually asymptomatic. Exercise limitation or atrial
and/or ventricular arrhythmias imply hemodynamic
difficulties.
CLASS III
1. Endocardial pacing is not recommended in patients with
CHD-PAH with persistent intravascular shunting, and alternative access for pacing leads should be sought (the risks
should be individualized). (512) (Level of Evidence: B)
Refer to Section 1.6, Recommendations for Infective Endocarditis, for additional information.
10. Tetralogy of Fallot
10.1 Definition and Associated Lesions
Tetralogy of Fallot has 4 components: subpulmonary infundibular stenosis, a VSD, an aorta that overrides the VSD by
The typical postrepair patient has a soft ejection systolic
murmur from the RVOT. The presence of a low-pitched,
delayed diastolic murmur in the pulmonary area is consistent
with pulmonary regurgitation. Such patients usually have an
absent P2 component of the second sound. The patient may
have a pansystolic murmur of a VSD patch leak. A diastolic
murmur of AR may also be heard. The occasional adult
patient may present having had a palliative shunt only.
Such patients usually have cyanosis and clubbing. If the
shunt is patent, a continuous murmur may be heard. In the
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presence of a prior classic Blalock-Taussig shunt, the brachial
and radial pulses may be diminished or absent on that side.
Table 14. Surgical Procedures for Rerepair of Tetralogy of
Fallot in Adults
Pulmonary valve replacement
In patients with transventricular repairs (the norm until the
1990s), complete right bundle-branch block is almost always
present, in which case QRS duration may reflect the degree of
RV dilation. A QRS duration of 180 ms or more has been
identified as a risk factor for sustained VT and sudden cardiac
death (167). The presence of atrial flutter or fibrillation or of
sustained VT reflects severe hemodynamic difficulties
(513,514).
10.3.3. Chest X-Ray
● Heterograft (porcine or pericardial) or homograft
● Mechanical PVR in patients who require warfarin anticoagulation for
other reasons. This procedure has been associated with late
malfunction from pannus formation.
● Patch augmentation of the pulmonary annulus for proper prosthetic
valve sizing
Subvalvular obstruction or pulmonary artery stenosis
● Resection of subvalvular obstruction and/or patch augmentation of the
RVOT, pulmonary annulus, main or branch pulmonary arteries
● Usually occurs in combination with PVR
In patients with a good hemodynamic result, the heart size is
usually normal. Cardiomegaly usually reflects important
pulmonary regurgitation and/or TR. The aortic arch is rightsided in 25% of cases.
Residual/recurrent VSD closure
10.3.4. Initial Surgical Repair
Replacement of ascending aorta for dilatation
Complete repair is considered 1) in palliated patients without
irreversible PAH or unfavorable pulmonary artery anatomy
and 2) as a primary operation, usually performed in the first
year of life. An adult who has undergone palliation earlier in
life can be considered for surgery for complete repair after
thorough evaluation indicates favorable anatomy and
hemodynamics.
Complete repair consists of VSD closure and relief of
RVOT obstruction. Relief of RVOT obstruction may
include simple resection of infundibular stenosis (muscle),
but if the pulmonary annulus is small, more extensive
surgery may be necessary. This may include RV outflow
patch augmentation or placement of a transannular patch
that disrupts the integrity of the pulmonary valve. Occasionally, an extracardiac conduit must be placed from the
right ventricle to the pulmonary artery when an anomalous
coronary artery crosses the RVOT. If the pulmonary valve
itself is abnormal, a pulmonary valvotomy or pulmonary
valve resection may be necessary. Effort should be made to
preserve the pulmonary valve during the primary operation
when performed in infancy. A PFO or small ASD is usually
closed. When complete repair is performed in adulthood,
pulmonary valve replacement may be required if the native
pulmonary valve integrity is disrupted (Table 14).
Key postoperative issues are summarized below:
●
●
●
●
●
●
●
●
●
Residual pulmonary regurgitation
RV dilation and dysfunction from pulmonary regurgitation,
possibly with associated TR
Residual RVOT obstruction
Branch pulmonary artery stenosis or hypoplasia
Sustained VT
Sudden cardiac death
AV block, atrial flutter, and/or atrial fibrillation
Progressive AR
Syndromal associations.
The most common problem encountered in the adult
patient after repair is that of pulmonary regurgitation. This is
frequently missed on clinical examination because the mur-
● Direct suture
● Patch revision
AVR (tissue or mechanical) for aortic regurgitation
● Tube graft
● Bentall procedure (composite valved conduit with coronary
reimplantation)
Aneurysm or pseudoaneurysm formation of RVOT
● Resection and patch replacement
Atrial arrhythmias
● Maze procedure or 1 of its modifications
Ventricular arrhythmias (ventricular tachycardia, ventricular fibrillation)
● Preoperative EP testing and ablation in the catheterization laboratory
● If unsuccessful, intraoperative mapping and ablation are performed
● Focus is most often in the RVOT between the VSD patch and the
pulmonary annulus
● Postoperative placement of an ICD for patients at high risk of sudden
death
Tricuspid valve repair for significant tricuspid regurgitation
Tricuspid valve replacement for a markedly abnormal tricuspid valve
Closure of residual PFO or ASD, especially if there is cyanosis, history of
paradoxical embolism, or anticipated need for a permanent pacemaker or ICD
PVR indicates pulmonary vascular resistance; RVOT, right ventricular outflow
tract; VSD, ventricular septal defect; AVR, aortic valve replacement; EP,
electrophysiology; ICD, implantable cardioverter defibrillator; PFO, patent
foramen ovale; and ASD, atrial septal defect.
mur is short and quiet and the pulmonary regurgitation is
often overlooked on echocardiography. Patients who present
with arrhythmias or cardiomegaly should undergo a thorough
evaluation to rule out underlying hemodynamic abnormalities. AR may also occur, often accompanied by aortic root
dilatation.
Follow-Up of the Repaired Patient
CLASS I
1. Patients with repaired tetralogy of Fallot should have at least
annual follow-up with a cardiologist who has expertise in
2. Patients with tetralogy of Fallot should have echocardiographic
examinations and/or MRIs performed by staff with expertise in
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3. Screening for heritable causes of their condition (eg, 22q11
deletion) should be offered to all patients with tetralogy of
Fallot. (Level of Evidence: C)
4. Before pregnancy or if a genetic syndrome is identified, consultation with a geneticist should be arranged for patients with
tetralogy of Fallot. (Level of Evidence: B)
5. Patients with unrepaired or palliated forms of tetralogy should
have a formal evaluation at an ACHD center regarding suitability for repair. (Level of Evidence: B)
All patients should have regular follow-up with a cardiologist who has expertise in ACHD (3,4,10,43,82,515,516).
The frequency, although typically annual, may be determined
by the extent and degree of residual abnormalities. Appropriate imaging (2-dimensional echocardiography annually in
most cases and/or MRI every 2 to 3 years) should be
undertaken by staff trained in imaging of complex congenital
heart defects. An ECG should be performed annually to
assess cardiac rhythm and to evaluate QRS duration. Periodic
cardiopulmonary testing may be helpful to facilitate serial
follow-up of exercise capacity and to evaluate the potential
for exercise-induced arrhythmias. Other testing should be
arranged in response to clinical problems, particularly a
Holter monitor if there is concern about arrhythmias.
10.4.1. Recommendation for Imaging
CLASS 1
1. Comprehensive echocardiographic imaging should be performed in a regional ACHD center to evaluate the anatomy and
hemodynamics in patients with repaired tetralogy of Fallot.
Echocardiography is usually very helpful in assessing a
patient after repair of tetralogy. The presence and severity of
residual RVOT obstruction and pulmonary regurgitation can
usually be assessed along with the presence or absence of TR.
The tricuspid regurgitant velocity facilitates measurement of
the RV pressure. A residual VSD may be seen. RV volume
and wall motion are not reliably quantified by standard
techniques, although size and function can be determined
qualitatively. Doppler measurement of the RV myocardial
performance index may be a useful adjunct to serial assessment of RV systolic function. Atrial size can be assessed.
Aortic root dilation and AR should be sought and evaluated at
regular intervals.
MRI is now seen as the reference standard (517,518) for
assessment of RV volume and systolic function. It can be
helpful in assessing the severity of pulmonary regurgitation
and in evaluating important associated pathology, especially
involving the pulmonary arteries and the ascending aorta.
Left-sided heart disease can also be evaluated. Recently, CT
scanning has become available (519 –521) to make similar
measurements of RV volume and systolic function and is
potentially helpful in patients who cannot have an MRI,
although because of the higher radiation exposure, it is not
suitable for serial measurements.
e75
10.5. Recommendations for Diagnostic and
Interventional Catheterization for Adults
With Tetralogy of Fallot
CLASS I
1. Catheterization of adults with tetralogy of Fallot should be
performed in regional centers with expertise in ACHD. (Level of
Evidence: C)
2. Coronary artery delineation should be performed before any intervention for the RVOT. (Level of Evidence: C)
CLASS IIb
1. In adults with repaired tetralogy of Fallot, catheterization may
be considered to better define potentially treatable causes of
otherwise unexplained LV or RV dysfunction, fluid retention,
chest pain, or cyanosis. In these circumstances, transcatheter
interventions may include:
a. Elimination of residual shunts or aortopulmonary collateral
vessels. (Level of Evidence: C)
b. Dilation (with or without stent implantation) of RVOT obstruction. (Level of Evidence: B)
c. Elimination of additional muscular or patch margin VSD.
d. Elimination of residual ASD. (Level of Evidence: B)
For the unusual case of a patient with tetralogy of Fallot who
has undergone palliation with a surgical shunt, catheterization
should be performed to assess the potential for repair. The
presence or absence of additional muscular VSDs may be
determined, as well as the course and anatomy of the epicardial
coronary arteries. The pulmonary architecture and vascular
pressure and resistance should be delineated, because pulmonary
artery distortion and PAH are frequent sequelae of palliative
surgical shunts. Potential catheter interventions include elimination of collateral vessels or systemic–pulmonary artery shunts,
dilation/stent implantation of obstructed pulmonary arteries, and,
more recently, the possibility of percutaneous pulmonary valve
implantation. Heart catheterization is not used routinely in the
assessment of patients who have undergone repair, except when
surgery or other therapy is being considered or for the evaluation
of the pulmonary and coronary arteries.
10.5.1. Branch Pulmonary Artery Angioplasty
Balloon angioplasty of a branch pulmonary artery results in
intimal and medial dissection and subsequent inflammatory
repair and increase in vessel size. Dilation may be considered
when RV pressure is more than 50% of the systemic level or at
lower pressure when there is RV dysfunction. Balloon pulmonary artery angioplasty may also be considered when there is
unbalanced pulmonary blood flow greater than 75%, 25%, or
otherwise unexplained dyspnea with severe vascular stenosis
(522,523). Pulmonary artery balloon angioplasty may be an
effective way to reduce obstruction to pulmonary blood flow,
thereby increasing pulmonary vascular capacitance and decreasing PVR (524). Balloon angioplasty is usually effective for
intermediate-branch pulmonary artery stenoses/occlusions, although it may require coimplantation of large stents (up to 24 to
26 mm diameter in width, up to 5.8 cm in length) in more
proximal main and early branch pulmonary arteries or right
ventricle–to–pulmonary artery conduits. Intravascular stents are
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Warnes et al.
of potential benefit as well in the presence of intimal flaps, vessel
kinks, and stenoses, especially in the early perioperative period.
Postdeployment antiinflammatory or antiproliferative/anticoagulant strategies remain undefined. Stent redilation has been
shown to be effective in selected patients as late as 10 years after
implantation (525). The applicability of these techniques has
recently been extended to adults with very distal segmental
pulmonary artery stenoses and appears promising (427,526).
The transcatheter approach to the management of residual
muscular or patch margin VSDs (indications typically include a
Qp/Qs greater than 1.5 to 2.0, or less in the setting of PAH, left
atrial hypertension, or LV failure) remains an effective alternative to reoperative surgical closure (527,528).
Exercise testing may be used to assess functional capacity
objectively and to evaluate possible exertional arrhythmias.
Serial evaluations may be helpful (55,529).
10.5.3. Diagnostic Catheterization
Catheter assessments and interventions for adults with previously repaired tetralogy of Fallot are indicated for the following
when adequate data cannot be obtained noninvasively:
●
●
●
●
●
●
●
●
Assessment of hemodynamics
Assessment of pulmonary blood flow and resistance
Assessment of the nature of RV outflow or pulmonary
artery obstruction
Delineation of coronary artery origin and course before any
interventional procedure
Assessment of ventricular function and presence of residual septal defects, as well as assessment of the degree of
mitral regurgitation or AR. The potential for placement of
transcatheter implants to reduce or eliminate residual VSDs
should be discussed in advance with the patient and
medical-surgical team
Assessment of the significance of flow across a PFO or
ASD and its potential elimination
Performance of coronary angiography, with potential to
eliminate symptomatic obstructive lesions
Assessment of pulmonary regurgitation and right-sided
heart failure.
10.6. Problems and Pitfalls in the Patient
With Prior Repair
The following problems occur in patients after repair of
tetralogy of Fallot:
●
●
●
Cardiomegaly on chest x-ray should prompt the search for
a residual hemodynamic lesion (commonly pulmonary
regurgitation).
The development of arrhythmias (atrial or ventricular)
should prompt the search for an underlying hemodynamic
abnormality (commonly pulmonary regurgitation).
Diagnostic confusion may occur in the context of doubleoutlet right ventricle, in which the aorta overrides the right
ventricle by more than 50%. In such cases, the VSD patch
is more extensive and predisposes to the presence of
postoperative subaortic obstruction, which should be carefully excluded.
JACC Vol. 52, No. 23, 2008
December 2, 2008:000–000
●
●
Hypoxemia in postoperative patients should prompt a
search for a PFO or ASD with a right-to-left shunt.
The presence of RV enlargement or dysfunction and the
presence of important TR should prompt the search for a
residual hemodynamic lesion (commonly pulmonary
regurgitation).
Some postoperative patients may have LV dysfunction.
This may relate to prolonged cardiopulmonary bypass, poor
myocardial protection from an early surgical era, or trauma to
a coronary artery at the time of repair, or it may be secondary
to severe RV dysfunction.
10.7. Management Strategy for the Patient
With Prior Repair
Most patients need no regular medication in the absence of
significant residual hemodynamic abnormality. Heart failure
medications may be necessary in the setting of RV and LV
dysfunction.
10.8. Recommendations for Surgery
for Adults With Previous Repair of
Tetralogy of Fallot
CLASS I
operations in adults with previous repair of tetralogy of Fallot.
2. Pulmonary valve replacement is indicated for severe pulmonary
regurgitation and symptoms or decreased exercise tolerance.
3. Coronary artery anatomy, specifically the possibility of an
anomalous anterior descending coronary artery across the
RVOT, should be ascertained before operative intervention.
CLASS IIa
1. Pulmonary valve replacement is reasonable in adults with
previous tetralogy of Fallot, severe pulmonary regurgitation,
and any of the following:
a. Moderate to severe RV dysfunction. (Level of Evidence: B)
b. Moderate to severe RV enlargement. (Level of Evidence: B)
c. Development of symptomatic or sustained atrial and/or ventricular arrhythmias. (Level of Evidence: C)
d. Moderate to severe TR. (Level of Evidence: C)
2. Collaboration between ACHD surgeons and ACHD interventional
cardiologists, which may include preoperative stenting, intraoperative stenting, or intraoperative patch angioplasty, is
reasonable to determine the most feasible treatment for pulmonary artery stenosis. (Level of Evidence: C)
3. Surgery is reasonable in adults with prior repair of tetralogy of
Fallot and residual RVOT obstruction (valvular or subvalvular) and
any of the following indications:
a. Residual RVOT obstruction (valvular or subvalvular) with
peak instantaneous echocardiography gradient greater than
b. Residual RVOT obstruction (valvular or subvalvular) with
RV/LV pressure ratio greater than 0.7. (Level of Evidence: C)
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Table 15.
e77
Estimates of Sudden Death After Tetralogy of Fallot Surgery
First Author of Study
Reference
Year of Study
No. of Patients
Incidence of Sudden Death
Murphy
530
1993
163
6% of cases followed up 30 years
Nollert
162
1997
490
Silka
346
1998
N/A
Approximately 2 deaths per 1000 patient-years
Norgaard
531
1999
125
5.6% of cases followed up 25 years
Gatzoulis
166
2000
793
N/A indicates not available.
c. Residual RVOT obstruction (valvular or subvalvular) with
progressive and/or severe dilatation of the right ventricle
with dysfunction. (Level of Evidence: C)
d. Residual VSD with a left-to-right shunt greater than 1.5:1.
e. Severe AR with associated symptoms or more than mild LV
dysfunction. (Level of Evidence: C)
f. A combination of multiple residual lesions (eg, VSD and
RVOT obstruction) leading to RV enlargement or reduced RV
function. (Level of Evidence: C)
Late survival after tetralogy repair is excellent; 35-year
survival is approximately 85%. The need for reintervention,
usually for pulmonary valve insertion, increases after the
second decade of life. Surgical intervention is indicated for
symptomatic patients with severe pulmonary regurgitation or
asymptomatic patients with severe PS or pulmonary regurgitation in association with signs of progressive or severe RV
enlargement or dysfunction. Patients with RV–to–pulmonary
artery conduit repairs often require further intervention for
conduit stenosis or regurgitation. Any intervention that involves the RVOT requires careful preoperative assessment of
the coronary anatomy to avoid interruption of an important
coronary vessel. Some patients experience increasing AR,
which requires surgical intervention.
Catheterization
CLASS I
1. Interventional catheterization in an ACHD center is indicated
for patients with previously repaired tetralogy of Fallot with the
a. To eliminate residual native or palliative systemic–pulmonary artery shunts. (Level of Evidence: B)
b. To manage coronary artery disease. (Level of Evidence: B)
CLASS IIa
1. Interventional catheterization in an ACHD center is reasonable
in patients with repaired tetralogy of Fallot to eliminate a
residual ASD or VSD with a left-to-right shunt greater than
1.5:1 if it is in an appropriate anatomic location. (Level of
Evidence: C)
Interventional catheterization in previously repaired tetralogy of Fallot should be planned carefully with the medical
and surgical team in an ACHD center. Although there is
experience in the use of catheter devices to close residual
shunts, experience with the use of percutaneous stent-valve
implants in the RV outflow for patients with pulmonary
regurgitation and right-sided heart failure is recent, and
efficacy/safety remains undefined, but this technique appears
promising.
10.9.1. Recommendations for Arrhythmias:
Pacemaker/Electrophysiology Testing
CLASS I
1. Annual surveillance with history, ECG, assessment of RV function,
and periodic exercise testing is recommended for patients with
pacemakers/automatic implantable cardioverter defibrillators.
CLASS IIa
1. Periodic Holter monitoring can be beneficial as part of routine
follow-up. The frequency should be individualized depending on
the hemodynamics and clinical suspicion of arrhythmia. (Level
of Evidence: C)
CLASS IIb
1. Electrophysiology testing in an ACHD center may be reasonable to define suspected arrhythmias in adults with tetralogy of
Fallot. (Level of Evidence: C)
Despite overall excellent hemodynamic outcomes after surgery for tetralogy of Fallot, there remains a concerning incidence
of unexpected sudden death during long-term follow-up (Table
15). VT appears to be the mechanism responsible for most of
these events, although rapidly conducted IART (atrial flutter) or
AV block may be responsible in some cases. The incidence of
sudden death for the adult tetralogy population can be estimated
from several large series to be on the order of 2.5% per
decade of follow-up (162,166,346,530,531). Although this
incidence is lower than the risk of sudden cardiac death in
other forms of adult heart disease (eg, ischemic myopathy
or hypertrophic myopathy), it is nonetheless a devastating
outcome that has been the topic of intense clinical investigation for more than 30 years (Table 16).
Numerous studies have attempted to define the mechanism
and risk factors for the development of sudden arrhythmic
death in this group. To date, no perfect risk-stratification
scheme has emerged, although several isolated variables have
been identified that correlate modestly well with malignant
arrhythmias. As shown in Table 16, the earliest of these is
related to compromised AV conduction, with the hypothesis
that trauma to AV conduction tissues at the time of surgery
(enough to cause permanent bifascicular block) could lead to
late sudden death, presumably due to abrupt worsening of
conduction with asystole (532). By the 1980s, however, the
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Table 16.
JACC Vol. 52, No. 23, 2008
December 2, 2008:000–000
Potential Risk Factors for Sudden Death After Tetralogy of Fallot Surgery
First Author of Study
Reference
Year
AV Block
Holter
EPS
RV Function
Shunt
Age Surg
ECG
Wolff
532
1972
Yes
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
533
1977
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Deanfield
534
1983
䡠䡠䡠
No
䡠䡠䡠
Yes
䡠䡠䡠
Gillette
Yes
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Horowitz
535
1980
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Kugler
536
1983
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Dunnigan
537
1984
䡠䡠䡠
538
1985
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
Yes
䡠䡠䡠
Yes
䡠䡠䡠
Garson
䡠䡠䡠
Yes
Yes
Walsh
140
1988
䡠䡠䡠
䡠䡠䡠
1990
䡠䡠䡠
䡠䡠䡠
Yes
Yes
165
䡠䡠䡠
No
䡠䡠䡠
Chandar
䡠䡠䡠
Yes
䡠䡠䡠
Yes
䡠䡠䡠
Zimmermann
539
1991
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
540
1992
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
Downar
䡠䡠䡠
䡠䡠䡠
Murphy
530
1993
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
Cullen
541
1994
䡠䡠䡠
䡠䡠䡠
No
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
542
1995
䡠䡠䡠
Yes
Gatzoulis
167
1995
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
Yes
䡠䡠䡠
Yes
䡠䡠䡠
Jonsson
䡠䡠䡠
Yes
Balaji
543
1997
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
162
1997
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
Nollert
Berul
544
1997
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Daliento
223
1999
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
Gatzoulis
166
2000
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
Therrien
170
2001
䡠䡠䡠
䡠䡠䡠
Yes
Hokanson
545
2001
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
Hamada
546
2002
䡠䡠䡠
䡠䡠䡠
Ghai
547
2002
䡠䡠䡠
䡠䡠䡠
Yes
Dore
548
2004
䡠䡠䡠
Khairy
169
2004
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
Yes
Russo
549
2005
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
Yes
䡠䡠䡠
Yes
Yes
Yes
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes
䡠䡠䡠
Yes
Yes
䡠䡠䡠
Yes
No
䡠䡠䡠
䡠䡠䡠
No
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
䡠䡠䡠
Yes indicates that the study supports the variable as being predictive of malignant arrhythmias. No indicates that the study does not support the variable as being
predictive of malignant arrhythmias.
An ellipsis indicates that the category of data is not applicable.
AV Block indicates atrioventricular block; Holter, high-grade ventricular ectopy on Holter monitoring; EPS, positive ventricular stimulation at electrophysiology study;
RV function, right ventricular function (including pulmonary regurgitation or residual pulmonary outflow obstruction); Shunt, history of prior palliative shunt surgery;
Age Surg, older age at time of definitive surgery; and ECG, electrocardiographic findings (QRS duration, JT dispersion, etc).
emphasis shifted away from AV block toward VT as the more
common mechanism for sudden death in tetralogy patients
(533–537). Multiple clinical and laboratory variables have
since been linked to an elevated likelihood of VT, although
the predictive accuracy for all these items remains imperfect.
The general picture that emerges for the high-risk tetralogy
patient involves some combination of 1) long-standing palliative shunts, 2) older age at the time of definitive surgery, 3)
abnormal RV hemodynamics (due to pulmonary regurgitation
and/or residual outflow obstruction), 4) high-grade ectopy on
Holter monitor, and 5) inducible VT at electrophysiological
study. (140,165,167,169,170,223,538 –549) In addition, it has
recently become apparent that reasonable correlation exists
between VT and certain ECG findings, particularly QRS
duration greater than 180 ms (167,170). This is not
surprising considering that the most dramatic degrees of
QRS prolongation tend to be seen among tetralogy patients
with highly dysfunctional and dilated right ventricles
(so-called mechanoelectric interaction). The QRS width on
ECG can thus be viewed as a crude proxy for size and
function of the right ventricle and can be tracked easily in
any adult tetralogy patient who is not pacemaker
dependent.
The proper risk-stratification approach to an asymptomatic
adult with repaired tetralogy is a matter of debate. Most
clinicians rely on a yearly evaluation with careful history,
physical examination, and ECG, supplemented every few
years with Holter monitoring or exercise testing to screen for
high-grade ventricular ectopy, as well as periodic echocardiograms or MRIs to monitor the functional status of the right
ventricle. Should nonsustained VT be detected on surveillance
monitoring in an asymptomatic patient, or should RV function
appear to be deteriorating, opinions still vary widely as to the
appropriate response. Some would recommend electrophysiology study to refine the arrhythmia risk; some would advise
surgery for pulmonary valve replacement if regurgitation exists;
some would prescribe antiarrhythmic drugs; some would implant a primary prevention defibrillator; and some refrain from
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treatment as long as the patient remains free of symptoms. In the
absence of firm outcome data, no single approach can be
dismissed or advocated, so that therapy continues to be individualized for asymptomatic patients depending largely on institutional experience and philosophy.
Worrisome symptoms (ie, palpitations, dizziness, or an
episode of syncope) should obviously heighten the index of
suspicion for serious arrhythmias in tetralogy patients and
trigger a prompt evaluation, including hemodynamic catheterization and electrophysiology study. At most centers,
treatment is usually tailored according to data obtained from
these invasive studies (169). Programmed ventricular stimulation during electrophysiology study provides reasonably
good predictive information regarding the risk of future
clinical VT events and all-cause mortality. In addition, if
stable monomorphic VT can be induced and sustained sufficiently long to permit mapping, catheter ablation of the VT
circuit might be considered. An electrophysiology study
could also uncover IART (atrial flutter) as a contributing or
confounding factor for a patient’s symptoms, which might be
addressed with catheter ablation at the same setting. Repairable hemodynamic issues may also be identified by echocardiography or cardiac catheterization that could possibly shift
therapy toward a surgical approach, such as closure of a
residual septal defect or relief of valve regurgitation, combined with intraoperative VT mapping and ablation.
Serious symptoms in adult patients with tetralogy of Fallot
(ie, documented sustained VT or cardiac arrest) are now
managed with implantable cardioverter defibrillators at almost all centers. There is little debate on this recommendation
in the modern era of reliable transvenous devices (175). Even
when catheter or surgical VT ablation has been tried with
acute success, the recurrence risk for ablative therapy remains
too uncertain (174) not to defer to an implantable cardioverter
defibrillator in a patient who has clearly demonstrated the
potential for life-threatening arrhythmias.
10.9.2. Reproduction
Pregnancy is not advised in patients with unrepaired tetralogy
of Fallot. After repair of tetralogy of Fallot, the prognosis for
a successful pregnancy is good provided there are no important hemodynamic residua and functional capacity is good. A
comprehensive, informed cardiovascular evaluation is recommended before each pregnancy. Pregnancy is usually well
tolerated even in the setting of severe pulmonary regurgitation, as long as RV function is no more than mildly depressed
and sinus rhythm is maintained (550).
Patients with tetralogy of Fallot have an increased risk of
fetal loss, and their offspring are more likely to have
congenital anomalies than offspring in the general population,
especially in the setting of a 22q11.2 microdeletion. Screening for 22q11.2 microdeletion should be considered in patients with conotruncal abnormalities before pregnancy to
provide appropriate genetic counseling (69). In the absence of
a 22q11 deletion, the risk of a fetus having CHD is approximately 4% to 6%. Fetal echocardiography should be offered
to the mother in the second trimester.
e79
10.9.3. Exercise
Recommendations are summarized by Task Force 1 of the
36th Bethesda Conference on CHD (3).
Refer to the AHA guidelines on endocarditis prophylaxis
(72). Also, refer to Section 1.6, Recommendations for Infective Endocarditis, for additional information.
11. Dextro-Transposition of the Great
Arteries
11.1. Definition
TGA implies that each great artery arises from the wrong
ventricle. TGA is AV concordance with ventriculoarterial
discordance. As such, d-TGA implies that the aorta arises
rightward and anterior to the pulmonary artery and arises
from the systemic right ventricle.
Patients with d-TGA by definition have abnormal origins of
the aorta and pulmonary artery. Anomalies of the coronary
ostia are also common, and clear delineation is required.
Additional congenital cardiac lesions include VSD, which
occurs in up to 45% of cases, LVOT obstruction in approximately 25% of cases, and coarctation of the aorta in
approximately 5%.
11.3. Clinical Course: Unrepaired
The infant with d-TGA will generally present with cyanosis,
and some form of admixture of blood is required for survival.
For the past 2 decades, ASO in the neonatal period has been
the primary surgical repair of choice for uncomplicated
d-TGA. In patients who present late (after 6 to 8 weeks of
age), pulmonary artery banding to prepare the left ventricle is
often necessary. Patients with d-TGA and associated VSD
may undergo initial pulmonary artery banding or shunt
procedure, depending on the presence or absence of subpulmonary artery obstruction. If there is an associated large
VSD, a Rastelli procedure can be performed as a primary
procedure. Initial presentation in adulthood would be rare
unless the patient is from an underserved country and has the
appropriate admixture of blood; usually, some form of VSD
and pulmonic stenosis (tetralogy of Fallot physiology) or
VSD with pulmonary vascular disease will be present with
associated cyanosis.
11.4. Recommendation for Evaluation of the
Operated Patient With Dextro-Transposition
of the Great Arteries
CLASS I
1. Patients with repaired d-TGA should have annual follow-up
with a cardiologist who has expertise in the management of
ACHD patients. (Level of Evidence: C)
Most adults born with d-TGA will have had 1 or more
operations in childhood. All patients should have regular
follow-up with a cardiologist who has expertise in ACHD.
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The frequency may be determined by the degree of residual
hemodynamic abnormalities, and these become more common, along with the occurrence of arrhythmias, with advancing age.
All operated d-TGA patients should be seen at least
annually by a specialist in an ACHD regional center, with
attention given to rhythm disorders, as well as ventricular and
valvular function. Stress testing, including cardiopulmonary
stress testing, should be applied selectively. If specialized
testing is performed, it is best done at a regional center. If
significant abnormalities are uncovered by these examinations, or if the patient is symptomatic, more frequent
follow-up visits are indicated.
11.4.1. Clinical Features and Evaluation of
Dextro-Transposition of the Great Arteries
After Atrial Baffle Procedure
Because the ASO only gained acceptance in the 1980s, many
adults with d-TGA will have had a Mustard or Senning
procedure. These procedures involve an atrial baffle that
redirects the systemic venous blood to the mitral valve and
left ventricle, which remains committed to the pulmonary
artery. The pulmonary venous blood is redirected to the
tricuspid valve and right ventricle, which remains committed
to the aorta.
The atrial baffle (Mustard or Senning) procedure for
d-TGA has characteristic late long-term problems. The most
common early structural complications include baffle obstruction, which most commonly affects the superior limb
rather than the inferior vena cava. Facial suffusion and
“superior vena cava syndrome” may result. Inferior vena cava
obstruction may cause hepatic congestion or even cirrhosis.
Baffle leaks occur in up to 25% of patients. Most are small
but may pose a risk of paradoxical embolus, particularly in
the setting of atrial arrhythmias and an endocardial pacemaker. Pulmonary venous obstruction may also occur but is
less common. Subpulmonary stenosis and PS may occur, in
part related to the abnormal geometry of the left ventricle,
which becomes distorted and compressed by the enlarged
systemic right ventricle. Long term, the most important
complication after atrial baffle is failure of the systemic right
ventricle and systemic TR. These complications have a major
impact on morbidity and mortality. Important but less common complications include PAH, residual VSD, dynamic
subpulmonic stenosis, and a host of conduction and arrhythmia disturbances with the potential for implantation of
permanent pacemakers or sudden death (37,108,111,
551–558).
The adult with a prior atrial baffle procedure may have a
relatively normal examination. More commonly, features of
RV enlargement and TR are present. A loud A2 is usually
present owing to the anterior position of the aorta and should
not be confused with the loud P2 of PAH. A harsh systolic
murmur may be a feature of a residual VSD or subpulmonary
stenosis. Heart failure with features of systemic TR occurs
with increasing frequency with longer duration of follow-up.
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Sudden cardiac death also occurs in a small percentage of
patients.
The ECG demonstrates right-axis deviation and RV hypertrophy in patients with prior atrial baffle because the right
ventricle is the SV. Bradycardia may represent a slow
junctional rhythm or complete heart block. Rhythm abnormalities may be further elucidated by ambulatory rhythm
monitoring (Holter or event recorder). Bradycardia and/or
syncope may be presenting features related to sinus node
dysfunction. Exercise testing to determine functional capacity
and the potential for arrhythmias may be helpful.
11.4.4. Imaging for Dextro-Transposition of the
Great Arteries After Atrial Baffle Procedure
A narrow mediastinal shadow is common on chest x-ray in
patients with d-TGA because of the parallel relationship of
the great arteries. Ventricular size and pulmonary markings
depend on patient status but are normal in patients with
preserved ventricular function.
11.4.4.1. Recommendations for Imaging for
After Atrial Baffle Procedure
CLASS I
1. In patients with d-TGA repaired by atrial baffle procedure, comprehensive echocardiographic imaging should be performed in a
regional ACHD center to evaluate the anatomy and hemodynamics. (Level of Evidence: B)
2. Additional imaging with TEE, CT, or MRI, as appropriate, should
be performed in a regional ACHD center to evaluate the great
arteries and veins, as well as ventricular function, in patients
with prior atrial baffle repair of d-TGA. (Level of Evidence: B)
CLASS IIa
1. Echocardiography contrast injection with agitated saline can
be useful to evaluate baffle anatomy and shunting in patients
with previously repaired d-TGA after atrial baffle. (Level of
Evidence: B)
2. TEE can be effective for more detailed baffle evaluation for
patients with d-TGA. (Level of Evidence: B)
Comprehensive echocardiography is the mainstay of anatomic and hemodynamic assessment in most d-TGA patients
after atrial baffle (108,111,551) and should be performed in
an experienced center. Evaluation for intra-atrial baffle anatomy and shunting or obstruction may warrant echocardiography contrast injection. Assessment of systemic RV function
is challenging by echocardiography. In addition to routine
evaluation of ventricular size and function, measurement of
the dP/dt of the AV regurgitant jet, Doppler tissue indices of
annular motion, and the myocardial performance index may
provide further insight (108,111,194,551,559,560). Tissue
Doppler evaluation of myocardial acceleration during isovolumic contraction has been validated as a sensitive, noninvasive method to assess RV contractility (561,562). The
myocardial performance index has the advantage of representing indices of both systolic and diastolic function without
geometric constraints and has shown a relationship to BNP
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levels in ACHD patients (193). The coronary anatomy may
be difficult to evaluate by echocardiography in the adult
patient.
TEE is used to provide complementary information, including imaging of atrial anatomy, the presence of baffle leak
or obstruction, and intracardiac thrombus. Radiological imaging with MRI or CT can be used to further assess atrial
baffle patency, systemic ventricular function, and coronary
anatomy.
MRI or magnetic resonance angiography is usually superior for evaluation of the extracardiac great arteries and veins.
Comparison of TTE with cardiac MRI to assess ventricular
function in adults after atrial baffle procedures has shown a
good correlation between ventricular dimensions and function (563). MRI has also been shown to correlate closely with
equilibrium radionuclide ventriculography assessment of RV
ejection fraction (564). Current MRI techniques with firstpass, contrast-enhanced myocardial perfusion and myocardial
delayed enhancement for viability, ischemia, and/or infarction are valuable tools (204).
Cardiac catheterization is used to assess hemodynamics,
baffle leak, superior vena cava or inferior vena cava pathway
obstruction, pulmonary venous pathway obstruction, myocardial ischemia, unexplained systemic RV dysfunction, or
significant LV stenosis (subpulmonary stenosis or LVOT
obstruction) or to assess the PAH, with potential for vasodilator testing. Cardiac catheterization in patients after the atrial
baffle procedure also provides the opportunity for intervention. For adults after palliative atrial baffle repair for d-TGA,
VSD, and pulmonary vascular disease, catheterization may be
indicated to assess the potential for pulmonary artery vasomodulator therapy.
After Arterial Switch Operation
The quality of life and health status of children 11 to 15 years
of age after ASO are similar to those of normal children and
significantly better than those of children who have undergone the atrial baffle procedure (565). In the current era, the
preference is for an ASO, and the earliest survivors of this
procedure are now adolescents and young adults (566,567).
Long-term concerns after the ASO include coronary insufficiency, myocardial ischemia, ventricular dysfunction and
arrhythmias, and issues regarding stenosis at the great arterial
anastomotic sites, as well as development of aortic or pulmonary regurgitation. Significant neoaortic root dilatation and
neoaortic valve regurgitation may develop over time, in part
related to older age at the time of ASO or to an associated
VSD with previous pulmonary artery banding (568).
Patients with prior ASO are now being seen in adult clinics.
They may present with no specific findings on physical
examination or with a systolic murmur related to arterial
obstruction at the arterial anastomosis site. Diastolic murmurs
of aortic or pulmonary regurgitation may be noted.
e81
The ECG should be normal in patients after ASO without
residua. Ischemic ECG changes are occasionally noted at rest
or may occur with exercise, which suggests compromise of
the coronary ostia. This should be evaluated further. RV and
LV hypertrophy may occur with outflow obstruction.
11.5.3. Chest X-Ray
The chest x-ray after uncomplicated ASO should be unremarkable. A narrow pedicle may be noted.
11.5.4. Recommendations for Imaging for
CLASS I
1. Comprehensive echocardiographic imaging to evaluate the
anatomy and hemodynamics in patients with d-TGA and prior
ASO repair should be performed at least every 2 years at a
center with expertise in ACHD. (Level of Evidence: C)
2. After prior ASO repair for d-TGA, all adults should have at least 1
evaluation of coronary artery patency. Coronary angiography
should be performed if this cannot be established noninvasively.
CLASS IIa
1. Periodic MRI or CT can be considered appropriate to evaluate
the anatomy and hemodynamics in more detail. (Level of
Evidence: C)
Echocardiography after ASO may demonstrate minimal
findings or 1 or more of the recognized complications after
ASO, which include the following: 1) stenosis at the arterial
anastomotic sites, most commonly PS (567); 2) aortic root
dilatation; and 3) neoaortic valve regurgitation (native pulmonary valve) (569). Coronary complications cannot be
assessed adequately by echocardiography, but stress echocardiography may facilitate detection of ischemia. CT angiography has been used recently. Patients with intramural or
single coronary arteries have increased mortality compared
with those with the typical coronary pattern (570).
11.5.5. Recommendation for Cardiac Catheterization
CLASS IIa
1. Coronary angiography is reasonable in all adults with d-TGA
after ASO to rule out significant coronary artery obstruction.
Coronary ischemia is a recognized late complication after
ASO, with concern about ischemia or infarction reported in
up to 8% of patients after ASO. These complications are due
to reimplantation of the coronary arteries during surgery
(567). Noninvasive testing for coronary ischemia may not be
sufficiently sensitive, and coronary arteriography has been
recommended 5, 10, and 15 years after ASO to detect
significant late coronary artery stenosis. Aortic root angiography is recommended to detect ostial coronary artery
disease.
Hemodynamic cardiac catheterization is used to assess
pulmonary and aortic anastomosis obstruction when incom-
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pletely evaluated by other imaging modalities. Cardiac catheterization in patients after ASO also provides the opportunity for intervention.
11.6. Clinical Features and Evaluation:
After Rastelli Operation
The Rastelli operation for a combination of d-TGA, PS, and
VSD has recognized complications that include RVOT or
pulmonary conduit obstruction, superimposed RV failure,
and TR. LVOT obstruction may also occur from the intraventricular baffle, arrhythmias from atriotomy and/or ventriculotomy incisions, residual VSD, myocardial hypertrophy,
chamber enlargement, aortic root dilatation, and aortic valve
regurgitation. The 3 most common late causes of postoperative death are sudden cardiac death, heart failure, and
reoperation.
Patients who have undergone the Rastelli procedure may
present with dyspnea, fatigue, or arrhythmias. As the pulmonary valve degenerates and becomes more obstructive, the A
wave in the jugular venous pressure rises, an RV heave
becomes apparent, and the murmur across the pulmonary
valve becomes louder. The P2 becomes quieter, and when the
valve is severely calcified, it disappears entirely.
The ECG in post-Rastelli patients often demonstrates right
bundle-branch block. RV hypertrophy and progressive conduction disease may occur with time.
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c. Assessment of superior vena cava or inferior vena cava
pathway obstruction. (Level of Evidence: B)
d. Assessment of pulmonary venous pathway obstruction.
e. Suspected myocardial ischemia or unexplained systemic RV
dysfunction. (Level of Evidence: B)
f. Significant LV outflow obstruction at any level (LV pressure
greater than 50% of systemic levels, or less in the setting of
RV dysfunction). (Level of Evidence: B)
g. Assessment of PAH, with potential for vasodilator testing.
2. For adults with d-TGA, VSD, and PS, after Rastelli-type repair,
diagnostic catheterization can be beneficial to assist in the
following:
a. Coronary artery delineation before any intervention for RVOT
obstruction. (Level of Evidence: C)
b. Assessment of residual VSD. (Level of Evidence: C)
c. Assessment of PAH, with potential for vasodilator testing.
d. Assessment of subaortic obstruction across the left
ventricle–to-aorta tunnel. (Level of Evidence: C)
The following are potential problems and pitfalls related to
adults with d-TGA:
●
●
11.6.2. Chest X-Ray
The chest x-ray demonstrates a narrow pedicle with associated features of conduit replacement. Cardiac enlargement
may occur with progressive valve disease.
11.6.3. Imaging
●
●
Echocardiography is the primary imaging modality in patients with prior Rastelli operation. Recurrent RV or LV
outflow obstruction can usually be delineated adequately by
echocardiography-Doppler examination. Assessment of RV
pressure and the occurrence of conduit obstruction can be
facilitated by measurement of TR velocity. Additional
important features should include assessment of pulmonary regurgitation, residual or baffle-margin VSD, and
development of PAH.
11.7. Recommendations for Diagnostic
Catheterization for Adults With Repaired
CLASS I
1. Diagnostic catheterization of the adult with d-TGA should be
performed in centers with expertise in the catheterization and
management of ACHD patients. (Level of Evidence: C)
CLASS IIa
1. For adults with d-TGA after atrial baffle procedure (Mustard or
Senning), diagnostic catheterization can be beneficial to assist
in the following:
a. Hemodynamic assessment. (Level of Evidence: C)
b. Assessment of baffle leak. (Level of Evidence: B)
Antiarrhythmic therapy, which might aggravate sinus node
dysfunction in patients after atrial baffle operation, must be
used cautiously.
A detailed assessment of the atrial baffle for leak and
obstruction must be undertaken before endocardial pacemaker implantation.
There is potential for endocardial pacing leads to exacerbate obstruction in the atrial baffle.
The absence of typical symptoms of coronary ischemia
does not preclude the presence of important ostial coronary
artery disease in patients with prior ASO.
The role of medical treatment (eg, ACE inhibitors and beta
blockers) to prevent or treat ventricular dysfunction has only
been studied in small numbers, and its benefit is controversial
(571–573). The role of ACE inhibitors and beta blockers
remains uncertain, and beta blockers may precipitate complete AV block in patients with preexisting sinus node
dysfunction. Therapy for heart failure now incorporates
medications directed at the renin-angiotensin-aldosterone
system.
Catheterization for Adults With DextroTransposition of the Great Arteries
CLASS IIa
1. Interventional catheterization of the adult with d-TGA can be
performed in centers with expertise in the catheterization and
management of ACHD patients. (Level of Evidence: C)
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2. For adults with d-TGA after atrial baffle procedure (Mustard or
Senning), interventional catheterization can be beneficial to
assist in the following:
a. Occlusion of baffle leak. (Level of Evidence: B)
b. Dilation or stenting of superior vena cava or inferior vena cava
pathway obstruction. (Level of Evidence: B)
c. Dilation or stenting of pulmonary venous pathway obstruction. (Level of Evidence: B)
3. For adults with d-TGA after ASO, interventional catheterization
can be beneficial to assist in dilation or stenting of supravalvular
and branch pulmonary artery stenosis. (Level of Evidence: B)
4. For adults with d-TGA, VSD, and PS, after Rastelli-type repair,
interventional catheterization can be beneficial to assist in the
following:
a. Dilation with or without stent implantation of conduit obstruction (RV pressure greater than 50% of systemic levels,
or peak-to-peak gradient greater than 30 mm Hg; these
indications may be lessened in the setting of RV dysfunction). (Level of Evidence: C)
b. Device closure of residual VSD. (Level of Evidence: C)
Interventional catheterization plays an important role in the
management of many adults with d-TGA after atrial baffle,
ASO, or Rastelli-type repair. As in the management of all
ACHD patients, a thorough understanding of baseline and
modified anatomy, with awareness of the details of each
modification, is requisite in the safe catheterization of each
affected adult.
11.8.2.1. Interventional Catheter Options After Atrial Baffle
Successful balloon-expanded stent implantation for relief of
symptomatic systemic or pulmonary venous baffle obstruction, as well as percutaneous placement of transcatheter
implants for baffle leak elimination, has been reported in
adult survivors of the atrial baffle for d-TGA. Percutaneous
placement of transcatheter implants for pulmonary artery
banding for improvement of systemic ventricular dysfunction
or TR or in anticipation of late arterial switch remains to be
tested.
11.8.2.2. Interventional Catheter Options After Arterial
Switch Operation
Catheterization may be particularly useful in the assessment
and therapy of coronary ischemia due to coronary artery
stenosis and occlusion (refer to Section 8.0, Coronary Artery
Abnormalities). Although reports exist of transcatheter dilation and stenting of central pulmonary artery stenosis after the
LeCompte maneuver (translocation of the right pulmonary
artery anterior to the aorta), the optimal indication for therapy
and the means of intervention remain to be determined.
11.8.2.3. Interventional Catheter Options After
Rastelli Repair
When branch pulmonary artery stenosis is present in adults
with prior Rastelli repair of d-TGA, collaboration between a
congenital cardiologist, interventional cardiologist, and congenital cardiac surgeon is recommended to determine the best
treatment, which may include preoperative stenting, intraoperative stenting, or intraoperative patch with or without
conduit replacement. Dilation with or without stent implan-
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tation of conduit obstruction may be indicated when the RV
pressure is greater than 50% of systemic levels or the
peak-to-peak gradient is greater than 50 mm Hg. These
indications may be lessened in the setting of RV dysfunction.
An attractive option is device closure of residual VSD when
the VSD is causing hemodynamic impact.
11.8.3. Recommendations for Surgical Interventions
11.8.3.1. After Atrial Baffle Procedure (Mustard, Senning)
CLASS I
operations in patients with d-TGA and the following indications:
a. Moderate to severe systemic (morphological tricuspid) AV
valve regurgitation without significant ventricular dysfunction. (574) (Level of Evidence: B)
b. Baffle leak with left-to-right shunt greater than 1.5:1, rightto-left shunt with arterial desaturation at rest or with
exercise, symptoms, and progressive ventricular enlargement that is not amenable to device intervention. (Level of
Evidence: B)
c. Superior vena cava or inferior vena cava obstruction not
amenable to percutaneous treatment. (Level of Evidence: B)
d. Pulmonary venous pathway obstruction not amenable to percutaneous intervention. (Level of Evidence: B)
e. Symptomatic severe subpulmonary stenosis. (Level of Evidence: B)
11.8.3.2. After Arterial Switch Operation
CLASS I
1. It is recommended that surgery be performed in patients after the
ASO with the following indications:
a. RVOT obstruction peak-to-peak gradient greater than
50 mm Hg or right ventricle/left ventricle pressure ratio
greater than 0.7, not amenable or responsive to percutaneous treatment; lesser degrees of obstruction if pregnancy
is planned, greater degrees of exercise are desired, or
concomitant severe pulmonary regurgitation is present.
b. Coronary artery abnormality with myocardial ischemia not
amenable to percutaneous intervention. (Level of Evidence: C)
c. Severe neoaortic valve regurgitation. (Level of Evidence: C)
d. Severe neoaortic root dilatation (greater than 55 mm) after
ASO. (575) (This recommendation is based on data for other
forms of degenerative aortic root aneurysms). (Level of
Evidence: C)
11.8.3.3. After Rastelli Procedure
CLASS I
1. Reoperation for conduit and/or valve replacement after Rastelli repair of d-TGA is recommended in patients with the
a. Conduit obstruction peak-to-peak gradient greater than
b. RV/LV pressure ratio greater than 0.7. (Level of Evidence:
C)
c. Lesser degrees of conduit obstruction if pregnancy is being
planned or greater degrees of exercise are desired. (Level of
Evidence: C)
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2.
3.
4.
5.
6.
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d. Subaortic (baffle) obstruction (mean gradient greater than
50 mm Hg). (Level of Evidence: C)
e. Lesser degrees of subaortic (baffle) obstruction if LV hypertrophy is present, pregnancy is being planned, or greater
degrees of exercise are desired. (Level of Evidence: C)
f. Presence of concomitant severe AR. (Level of Evidence: C)
Reoperation for conduit regurgitation after Rastelli repair of d-TGA
is recommended in patients with severe conduit regurgitation and
the following indicators:
a. Symptoms or declining exercise tolerance. (Level of Evidence: C)
b. Severely depressed RV function. (Level of Evidence: C)
c. Severe RV enlargement. (Level of Evidence: C)
d. Development/progression of atrial or ventricular arrhythmias. (Level of Evidence: C)
e. More than moderate TR. (Level of Evidence: C)
Collaboration between surgeons and interventional cardiologists,
which may include preoperative stenting, intraoperative stenting,
or intraoperative patch angioplasty with or without conduit replacements, is recommended to determine the most feasible
treatment for pulmonary artery stenosis. (Level of Evidence: C)
Surgical closure of residual VSD in adults after Rastelli repair of
d-TGA is recommended with the following indicators:
a. Qp/Qs greater than 1.5:1. (Level of Evidence: B)
b. Systolic pulmonary artery pressure greater than 50 mm Hg.
c. Increasing LV size from volume overload. (Level of Evidence: C)
d. Decreasing RV function from pressure overload. (Level of
Evidence: C)
e. RVOT obstruction (peak instantaneous gradient greater
than 50 mm Hg). (Level of Evidence: B)
f. Pulmonary artery pressure less than two thirds of systemic
pressure, or PVR less than two thirds of systemic vascular
resistance, with a net left-to-right shunt of 1.5:1, or a
decrease in pulmonary artery pressure with pulmonary vasodilators (oxygen, nitric oxide, or prostaglandins). (Level of
Evidence: B)
Surgery is recommended after Rastelli repair of d-TGA in adults
with branch pulmonary artery stenosis not amenable to percutaneous treatment. (Level of Evidence: C)
In the presence of a residual intracardiac shunt or significant
systemic venous obstruction, permanent pacing, if indicated,
should be performed with epicardial leads. (574) (Level of
Evidence: B)
CLASS IIa
1. A concomitant Maze procedure can be effective for the
treatment of intermittent or chronic atrial tachyarrhythmias in
adults with d-TGA requiring reoperation for any reason. (Level of
Evidence: C)
11.8.3.4. Reoperation After Atrial Baffle Procedure
Late survival after atrial baffle is approximately 65% at 25
years; survival is approximately 80% for “simple” TGA and
45% for those with “complex” d-TGA (ie, those with a VSD
or PS) (576). Reoperation after the atrial baffle procedure in
adults is recommended for patients with a baffle leak that is
not amenable to device intervention, demonstrates a left-toright shunt greater than 1.5:1 or a right-to-left shunt with
arterial desaturation at rest or with exercise, is associated with
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symptoms, or progressive ventricular enlargement. Although
late conversion to an ASO has been attempted in some
centers, it has not proved successful and is not generally
considered a reasonable option for the management of systemic ventricular failure in patients with TGA.
Patients with severe symptomatic superior or inferior vena
cava obstruction or pulmonary venous pathway obstruction
not amenable to percutaneous treatment should be referred
for operative intervention. Patients with severe symptomatic
subpulmonary stenosis should also be considered for operative intervention.
Severe symptomatic systemic AV (morphological tricuspid) valve regurgitation may prompt surgical referral when
the problem relates to intrinsic tricuspid valve disease and is
not secondary to systemic ventricular dysfunction. This is a
rare occurrence, because most TR after atrial baffle procedure
is secondary to systemic ventricular dysfunction. Alternative
techniques include tricuspid valve replacement, pulmonary
artery band placement, and transplantation.
11.8.3.5. Reoperation After Arterial Switch Operation
Late survival after the ASO is approximately 90% at 10 years.
A small risk of progressive aortic root dilation is present late
after ASO (577).
Reoperation after ASO should be considered for adults
with the following: severe RVOT obstruction peak-to-peak
gradient greater than 50 mm Hg or RV/LV pressure ratio
greater than 0.7, not amenable or responsive to percutaneous
treatment, or lesser degrees of obstruction that are dynamic if
pregnancy is planned or greater degrees of exercise are
desired. Pulmonary valve replacement or repair should be
considered when severe pulmonary regurgitation is present
and there is significant RV dilatation or RV dysfunction.
Coronary ostial stenosis late after the ASO may be repaired
by coronary bypass grafting or ostial arterioplasty techniques.
Patients who have developed neoaortic root dilation without
severe AR may be treated with valve-sparing rootreplacement techniques when the aortic root diameter is
greater than 55 mm.
11.8.3.6. Reoperation After Rastelli Repair
Late survival after the Rastelli procedure is approximately
60% at 20 years. Complications that may require reoperation
or intervention are expected (453,578 –580).
Reoperation after the Rastelli procedure for d-TGA in
adults should be considered for severe symptomatic conduit
obstruction with a peak gradient greater than or equal to
50 mm Hg, or lesser degrees of obstruction if pregnancy is
being planned or greater degrees of exercise are desired, if the
RV/LV pressure ratio is greater than 0.7, or in the setting of
RV dysfunction. Severe conduit regurgitation after Rastelli
repair should prompt consideration for reoperation for
symptoms or decreased exercise tolerance, severely depressed RV function, severe RV enlargement, development/progression of atrial or ventricular arrhythmias, and
more than moderate TR.
Relief of severe symptomatic subaortic (baffle) obstruction
with a mean gradient greater than 50 mm Hg, or for lesser
degrees of obstruction if LV hypertrophy is present, preg-
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nancy is being planned, or greater degrees of exercise are
desired. Occasionally, AVR is required for severe symptomatic AR. Closure of a residual VSD after Rastelli repair
should be considered if there is a Qp/Qs greater than 1.5:1,
systolic pulmonary artery pressure greater than 50 mm Hg,
increasing left-sided heart size from volume overload, decreasing RV function from pressure overload, pulmonary
artery pressure greater than two thirds of systemic pressure,
or PVR less than two thirds of systemic vascular resistance
with a net left-to-right shunt of 1.5:1 or a decrease in
pulmonary artery pressure with pulmonary vasodilators (oxygen, nitric oxide, or prostaglandins). Occasionally, reoperation after Rastelli repair of d-TGA in adults with branch
pulmonary artery stenosis not amenable to percutaneous
treatment is recommended.
11.8.3.7. Other Reoperation Options
A concomitant Maze procedure can be effective for the
treatment of intermittent or chronic atrial tachyarrhythmias in
adults with d-TGA who are undergoing reoperation. This
option for arrhythmia management should be considered
preoperatively.
Cardiac transplantation may be required in failing systemic
ventricular circulations; given that there are frequently anomalous venous or arterial connections, cardiac malpositioning,
or both, technical anastomotic issues are common (581). In
addition, many patients have had multiple surgeries and have
more adhesions, which makes postoperative bleeding more of
a concern, with the need for more blood transfusions and
consequently more antigenic exposure, which leads to accelerated rejection.
11.9. Recommendations for Electrophysiology
Testing/Pacing Issues in DextroTransposition of the Great Arteries
CLASS I
1. Clinicians should be mindful of the risk of sudden arrhythmic
death among adults after atrial baffle repair of d-TGA. These
events usually relate to VT but may be caused in some cases by
rapidly conducted IART or progressive AV block. (Level of
Evidence: B)
2. Consultation with an electrophysiologist who is experienced
with CHD is recommended to assist with treatment decisions.
3. Pacemaker implantation is recommended for patients with
d-TGA with either symptomatic sinus bradycardia or sick sinus
syndrome. (Level of Evidence: B)
CLASS IIa
1. Routine surveillance with history, ECG, assessment of RV
function, and periodic Holter monitoring can be beneficial as
part of routine follow-up. (Level of Evidence: B)
Predictors of sudden cardiac death after atrial baffle operations include symptoms from arrhythmias or heart failure
and a history of documented arrhythmias, including atrial
flutter or fibrillation (582). Whether electrophysiological and
mapping studies with ablation of atrial flutter or fibrillation
(which are frequently due to ventricular dysfunction) are
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protective is unknown. Pacing has not been found to be
protective, and drug therapy (other than digoxin) is relatively
unexplored; most (81%) sudden death events have occurred
during exercise. When a rhythm has been recorded during
sudden cardiac death, it is most often VT or ventricular
fibrillation (582).
The most significant arrhythmia issue facing adults with
d-TGA is the high incidence of tachy-brady syndrome that
occurs in those who have undergone the Mustard or Senning
operations (144). There is little doubt that these arrhythmias
relate directly to the extensive suture lines created during
atrial baffling, because the problem has largely disappeared in
patients managed with the ASO. Some degree of sinus node
dysfunction will be observed in more than half of the Mustard
and Senning populations by the time they reach adulthood,
probably due to surgical trauma in the vicinity of the sinus
node or its arterial supply during creation of the superior vena
cava limb of the atrial baffle (144). In addition, up to 30% of
these patients will develop episodic IART or atrial flutter,
which typically involves a macroreentry circuit around the
atrial border of the tricuspid valve that is supported by the
narrow conduction corridor between the inferior vena cava
limb of the baffle and the valve ring (583). Patients can
become highly symptomatic from either tachycardia or bradycardia, including the possibility of sudden death due to an
episode of rapidly conducted IART (150). In patients who
have advanced dysfunction of their systemic right ventricle,
ventricular arrhythmias may also develop.
Treatment of tachy-brady syndrome in this setting can be
quite challenging. As discussed in Section 1, options include
pacemaker implantation for the bradycardia component
(584), and for the tachycardia component, any combination of
catheter ablation (147,159,583), drug therapy (149), or an
automatic atrial antitachycardia pacemaker (155,584). For
patients viewed as being at risk for serious ventricular
arrhythmias or those resuscitated from a cardiac arrest,
implantation of a defibrillator may be necessary. It should be
emphasized that insertion of transvenous pacemaker or defibrillator leads in d-TGA patients after the Mustard or Senning
operation involves unconventional lead routes and tipfixation sites due to the complex atrial baffling. Operators
need to have a clear understanding of the surgical anatomy
before attempting such implants.
Prophylaxis
CLASS IIa
or perforation of the oral mucosa is reasonable in those with
a. Prosthetic cardiac valve. (Level of Evidence: B)
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CLASS III
CLASS I
1. Before women with d-TGA contemplate pregnancy, a comprehensive clinical, functional, and echocardiographic evaluation
should be performed at a center with expertise in ACHD. (Level
of Evidence: C)
Comprehensive evaluation is recommended before pregnancy in all patients with d-TGA and prior repair. For patients
after atrial baffle, major prepregnancy concerns include
ventricular function assessment, systemic AV regurgitation,
and atrial arrhythmias. There is a small but recognized risk of
cardiovascular complications during pregnancy after the
atrial baffle procedure. The physiological stresses of pregnancy, although clinically well tolerated late after a Mustard
procedure, carry an increased risk of RV dysfunction that
may be irreversible (585).
After a Rastelli operation, pregnancy should be well
tolerated, assuming the absence of LV or RV obstruction and
preservation of ventricular function. Isolated reports are
available on the outcome of pregnancy after ASO. In the
absence of important cardiovascular residua, pregnancy is
well tolerated. A comprehensive anatomic and functional
assessment, including assessment of coronary artery anatomy, is recommended before a patient proceeds with
pregnancy.
11.10.3. Activity and Exercise
Patients with prior atrial baffle and Rastelli operation should
be counseled to avoid strenuous and isometric exercise due to
the risk of arrhythmias. Patients with prior ASO can participate in strenuous athletics if there is no evidence of important
residua, including coronary artery complications.
12. Congenitally Corrected Transposition
of the Great Arteries
12.1. Definition
CCTGA is a complex congenital anomaly with a wide
spectrum of morphological features and clinical profiles. The
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underlying abnormality consists of AV discordance and
ventricular-arterial discordance; thus, the right atrium connects to the morphological left ventricle, which gives rise to
the pulmonary artery, and the left atrium connects to the
morphological right ventricle, which gives rise to the aorta
(586). The morphological right ventricle therefore functions as the SV, whereas the morphological left ventricle
functions as the pulmonary ventricle. The term “corrected”
refers to the physiologically normal direction of blood flow
caused by this “double discordance,” which makes the term
“corrected” misleading (587). The term “l-transposition” is
synonymous with CCTGA and indicates that the morphological RV is to the left of the morphological LV. In addition, the
aorta is usually anterior to and to the left of the pulmonary
artery. The AV valve that enters the SV is morphologically
tricuspid and to avoid confusion is often designated the
systemic AV valve (SAVV). Similarly, the AV valve entering
the pulmonary ventricle is a morphological mitral valve and
may be called the pulmonary AV valve. Ninety-five percent
of cases occur in situs solitus (588). The coronary arteries and
the ventricles are morphologically concordant, so a relatively
thick-walled morphological right ventricle is supplied by a
right coronary artery (589). The apex of the heart is usually in
the left side of the chest (levocardia) but may be in the
midline (mesocardia) or in the right side of the chest
(dextrocardia) in approximately 20% of cases.
Only 1% of cases are uncomplicated, that is, they do not have
associated anomalies. Frequently associated structural anomalies include the following:
●
●
●
VSD occurs in 70% of patients and is usually
perimembranous.
PS occurs in 40% of patients and is often subvalvular.
Some abnormality of the SAVV occurs in 90% of patients.
Most commonly, this is an Ebstein-like malformation in
which the valve is displaced inferiorly toward the cardiac
apex (590).
The AV node and His bundle are often in an unusual
position, and an accessory AV node is present in many
patients (180). Conduction abnormalities are also common,
with spontaneous complete heart block occurring at a rate of
approximately 2% per year, and they are related to the
abnormal position of the AV node (180,591,592). Complete
AV block is common after surgical repair of a VSD or SAVV
replacement, because the His bundle usually passes along the
rim of the VSD.
The adult with CCTGA presents in various ways, and the
clinical course is quite variable depending on the presence
and severity of associated lesions (593).
12.3.1. Presentation in Adulthood: Unoperated
Some patients were diagnosed in childhood but did not
require operation. In some adults, the diagnosis is made for
the first time because of a heart murmur or incidentally when
an ECG, chest x-ray, or echocardiogram is performed for
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other reasons (593). The diagnosis is often missed in cardiology practice because of the failure to recognize the abnormal position of the ventricles and the associated AV valves
(594).
A subset of patients is correctly diagnosed for the first time
in adulthood, most of whom have SAVV regurgitation. In 1
cohort, the initial diagnosis was not made until adulthood in
66% of patients, 17% of whom were more than 60 years old
at the time of diagnosis (594). Patients may be asymptomatic
but more often present with congestive heart failure, commonly with associated SAVV regurgitation. Symptoms include fatigue, dyspnea, and palpitation or syncope from atrial
fibrillation or flutter or complete AV block. Those with a
VSD and PS may have progressive cyanosis.
Many adult patients have advanced systemic ventricular
dysfunction at the time of referral to a tertiary care center.
Often, they have had severe SAVV regurgitation for more
than 6 months and documented symptoms of heart failure or
an SV ejection fraction less than 45% for more than 6 months
(594). This is in distinct contrast to the accepted guidelines
for patients with mitral regurgitation, even though patients
with normal AV connections are less fragile than their
counterparts with discordant AV connections.
In the majority of patients, the SAVV is morphologically
abnormal, and with time, there is increasing regurgitation. In
addition, as the SV dilates, the annulus also dilates, which
causes failure of leaflet coaptation and progressive regurgitation. The interrelationship of SAVV regurgitation and
ventricular function is complex. In most cases, ventricular
dysfunction appears to be related to SAVV regurgitation.
Although it is difficult to determine whether ventricular
dysfunction is the initial culprit, evidence suggests that in the
absence of associated congenital anomalies, primary SV
failure is uncommon but is a frequent sequel to SAVV
regurgitation. In one study of 40 patients, the only independent significant predictor of death was the presence of at least
moderately severe TR, and in turn, only the presence of a
morphologically abnormal SAVV predicted SAVV regurgitation (595). Progression of SAVV regurgitation may also
occur as a result of pacemaker implantation, probably related
to septal shift and further distortion of the SAVV annulus.
Intracardiac repair of other lesions (eg, VSD) may also
exacerbate SAVV regurgitation, probably by the same mechanism. It has been proposed that the SAVV should always be
replaced if the regurgitation is more than grade 2/4 at the time
of intracardiac repair of other lesions (596).
Although the morphological right ventricle may not be
intrinsically suited to function long term as a systemic pump,
survival to the seventh and eighth decade of life has been
reported. Even in the absence of associated lesions, however,
such survival is uncommon and invariably occurs in those in
whom no operation has been performed. In a multicenter
study of 182 patients with CCTGA, by age 45 years, 67% of
patients with associated lesions had congestive heart failure,
and 25% of patients without significant associated lesions had
congestive heart failure (597). The exact mechanism of SV
failure is unknown but may relate to microscopic structural
features and fiber orientation of the RV myocardium. Other
possibilities include coronary perfusion mismatch, because
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the cardiac hypertrophy caused by the added pressure load on
the morphological right ventricle may outstrip the coronary
artery oxygen supply, which comes mainly from the right
coronary artery (598). A high incidence of myocardial perfusion defects with regional wall-motion abnormalities and
impaired ventricular contractility has been reported (599).
Positron emission tomography studies of blood flow measurements have also suggested that coronary reserve is
decreased in the absence of ischemic symptoms in patients
with CCTGA (454). Thus, there is a concept of mismatched
myocardial demand (related to the hypertrophy and increased
myocardial mass) and the blood supply from the single right
coronary artery. Certainly, SV failure is a major cause of
morbidity and mortality in the adult (49), and in 1 series was
the cause of death in more than 50% of patients (600).
Atrial tachyarrhythmias are also common and occurred in
36% of survivors in the series reported by Connelly et al
(600). They are more common in those with SV dysfunction
and SAVV regurgitation and should be dealt with
expeditiously.
Unoperated Patient
The clinical features depend on the presence or absence of
associated lesions. Those with no associated lesions may have
subtle findings of an abnormal ventricular impulse with an
RV parasternal lift and a palpable second sound (loud A2) that
relates to the anterior aorta. When AV valve regurgitation
develops, a holosystolic murmur is audible at the apex or
lower left sternal border. Those with PS will have an ejection
systolic murmur at the left sternal border, often in the third
interspace. Patients with a VSD will have a holosystolic
murmur similar to those patients with normal connections.
Patients with a VSD and PS may have cyanosis. The
diagnosis should always be considered in the setting of
dextrocardia.
The PR interval, which extends from the beginning of the P
wave to the inscription of the R wave, is often prolonged, and
there may be complete heart block (incidence of 2% per
year). Because the right and left bundle branches are inverted,
septal activation occurs from right to left, so that Q waves are
absent in the left precordial leads but often present in the
inferior leads III and AVF, as well as V1. This may be
misdiagnosed as inferior infarction.
Exercise testing helps to provide an objective assessment of
functional capacity. Serial evaluations facilitate detection of
functional decline, although patients may report that they are
“normal.” One study (52) showed that peak oxygen uptake
(V̇o2 max) in a group of 41 patients with CCTGA ranged
from 11 to 22 mL per kg per min, which is the equivalent of
only 30% to 50% of normal control values.
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12.4.4. Chest X-Ray
Because of the abnormal relationship of the aorta and
pulmonary artery, the vascular pedicle looks abnormal, often
appearing narrow and straight. The ascending aorta is not
visible on the right, and the descending aorta and pulmonary
artery may not be visible on the left. The ventricular silhouette has a “humped” appearance (601). In the presence of
SAVV regurgitation and ventricular dysfunction, the heart
may be enlarged. Dextrocardia also occurs with CCTGA, and
if the chest x-ray reveals the gastric bubble on the left
(abdominal situs solitus) and the apex of the heart on the
right, CCTGA should be suspected.
Cardiac catheterization will facilitate evaluation of ventricular function and the degree of SAVV regurgitation if there is
doubt after noninvasive studies. In the setting of depressed
ventricular function, significant SAVV regurgitation should
be ruled out in all cases. A hemodynamic assessment of other
associated anomalies can be performed in addition to a
measurement of associated PAH and pulmonary resistance.
12.4.5. Two-Dimensional Echocardiography
CLASS I
Two-dimensional echocardiography facilitates detection of
AV discordance and ventriculoarterial discordance (602). The
determination of ventricular morphology is best assessed by
the AV valves, because a tricuspid valve always enters a
morphological right ventricle. In the apical 4-chamber view,
the tricuspid valve is always the most inferior valve (closer to
the cardiac apex). In addition, it has chordal attachments to
the inlet septum and can be differentiated from the mitral
valve by the absence of distinct papillary muscle attachments.
Malformations of the morphological tricuspid valve (eg,
SAVV) can also be seen, the most common being an
Ebstein-like abnormality with marked inferior displacement
of the SAVV. This is very different from the classic Ebstein
anomaly of the right AV valve, however, because there is no
large “sail-like” anterior leaflet and no atrialized portion of
the ventricle. In the short axis, the tricuspid valve can be
shown to be trileaflet rather than having the bileaflet “fish
mouth” appearance of the mitral valve in diastole. The
abnormal great arterial relationship can also be shown in this
view because the aorta lies anterior and to the left of the
pulmonary artery.
Other defects can also be detected by 2-dimensional
echocardiography. If a VSD is present, it is usually in the
perimembranous region and may extend into the inlet septum.
Abnormalities of the pulmonary valve can also be seen,
which often coexist with obstruction in the subpulmonary
region: either an aneurysm of the membranous septum, a
fibrous membrane, or mobile subpulmonary tissue “tags,”
which also contribute to obstruction. Assessment of RV
function is much more difficult than assessment of LV
function because of its more complex shape, and this is
equally true when the right ventricle is the SV.
1. All patients with CCTGA should have a regular follow-up with a
cardiologist who has expertise in ACHD. (Level of Evidence: C)
2. Echocardiography-Doppler study and/or MRI should be performed yearly or at least every other year by staff trained in
imaging complex CHD. (Level of Evidence: C)
3. The following diagnostic evaluations are recommended for
patients with CCTGA:
a. ECG. (Level of Evidence: C)
b. Chest x-ray. (Level of Evidence: C)
c. Echocardiography-Doppler study. (Level of Evidence: C)
d. MRI. (Level of Evidence: C)
e. Exercise testing. (Level of Evidence: C)
Follow-Up of Patients With Congenitally
Corrected Transposition of the Great Arteries
The frequency of follow-up visits may be determined by
the presence or absence of associated lesions but is often
annual. More frequent visits may be necessary for those with
ventricular dysfunction and SAVV regurgitation, regardless
of whether they are symptomatic. Clinical examination, ECG,
chest x-ray, and cardiopulmonary exercise testing will usually
be performed. If progression of heart block is suspected by
history or ECG, ambulatory ECG monitoring for 24 hours
should be considered. Patients who have implantation of an
endocardial pacemaker warrant more frequent observation,
because septal shift may cause deterioration in SV
dysfunction.
12.6. Key Issues of Unoperated Patients
Key issues for patients who have never had surgery and those
who have previously had reparative surgery are listed below.
Unrepaired Patients:
●
●
The reference standard for assessing function is generally
accepted as being MRI, which permits multiple “slices”
through the ventricle to assess end-diastolic and end-systolic
volumes to be measured and an ejection fraction calculated.
Edge detection is currently made by hand, so errors in the
technique are still inherent, but automated methods of edge
detection are under development. MRI is not available in all
centers, however, and is precluded in the presence of a
pacemaker. Echocardiography is still the most commonly
used imaging modality and will provide a reasonable assessment of ventricular function in experienced hands.
●
●
●
●
●
There is a potential for failure to make the diagnosis.
CCTGA should always be considered in the presence of
dextrocardia, particularly when the gastric bubble is on the
left and the cardiac apex is on the right.
Symptoms and functional status should be assessed (exercise testing should be used to assess functional capacity).
Function of the SV should be monitored.
Significant SAVV regurgitation should be excluded in the
presence of SV dysfunction.
The patient should be referred for early SAVV replacement before SV function deteriorates. Operative intervention should be performed before the ejection fraction
is less than 45%.
An underlying hemodynamic abnormality (often SAVV
regurgitation) should be sought when arrhythmias develop.
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●
Caution should be used with the dosage of antiarrhythmic
therapy, and the risk of complete AV block should be
considered.
Previously Repaired Patients:
●
●
●
●
●
SV function should be monitored.
Follow-up of SAVV prosthetic function should be conducted.
Conduit function should be monitored.
Aortic valve regurgitation should be monitored.
Surveillance should be used for arrhythmias, both atrial and
ventricular. Periodic Holter monitoring should be used to
look for problems with AV conduction. Sinus rhythm
should be maintained when possible.
Medical therapy is usually related to the management of
arrhythmias and treatment of ventricular dysfunction. Arrhythmia management is generally the same as for other
forms of acquired heart disease, with concern about the
potential for proarrhythmia and the negative inotropic potential of some drugs. It is prudent to start antiarrhythmic therapy
relatively slowly because of the potential for complete AV
block and the possible need for pacemaker implantation.
Treatment for SV dysfunction is appropriate, as for other
forms of cardiomyopathy, but with important caveats. It is
tempting to extrapolate treatment outcomes from other acquired causes of LV dysfunction to patients with systemic
right ventricles such as CCTGA, but there are few evidencebased data to support the use of any drugs in this setting
(572,573). Afterload reduction with ACE inhibitors or angiotensin II receptor blockers may be less successful than when
used for a morphological left ventricle (603). Data are lacking
to support the use of beta blockers to improve ventricular
function in CCTGA, and caution must be used with dosage
because of the propensity for complete AV block. Decline in
SV function should prompt a careful search for SAVV
regurgitation. Cardiac transplantation may be necessary in
those with severe SV dysfunction refractory to medical
therapy.
12.8. Interventional Therapy
12.8.1. Recommendations for Catheter Interventions
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CCTGA, both in the unoperated native state and after surgical
repair with VSD patch or Rastelli-type LV–pulmonary artery
connections. In addition, catheter-based hemodynamic assessment may be indicated more frequently in patients undergoing relatively pioneering surgical interventions (such as
combined atrial switch and great ASO), in an attempt to
provide the best care when optimal follow-up surveillance
strategies have not yet been defined.
12.8.2. Initial Surgical Repair
Surgical repair in infants and children often aims at restoring
the left ventricle as the SV. The indications for surgery in
adult patients are usually the onset of symptoms due to
associated SAVV regurgitation or SV dysfunction and rarely
due to pulmonary overcirculation. Surgical intervention in the
adult, therefore, often consists of SAVV replacement alone
and ideally should be performed before the SV ejection
fraction has deteriorated below 45% (604). In some circumstances, consideration may be given to restoring the left
ventricle to the SV, but careful evaluation of its function must
be made, because anatomic repair in adults is associated with
a higher mortality. In cases in which there is an unrestrictive
VSD and LV function is normal, an anatomic repair should be
considered. Atrium-level switch of venous return must also
be done with the Mustard or Senning procedure, with all the
potential for late complications already recognized in patients
with d-TGA who have had these procedures. If the VSD is
unrestrictive and is located in the conoventricular septum,
adjacent to the tricuspid valve, then a Rastelli type of
reconstruction for the LV outflow can be done by baffling the
VSD to the leftward and anterior aorta. Right ventricle–to–
pulmonary artery continuity is achieved with a conduit. A
nonanatomic repair may also be considered, which would
consist of closure of the VSD, relief of PS if present, and
replacement of the SAVV in the setting of SAVV regurgitation. It has been suggested that the SAVV should be replaced
at the time of surgery if any more than mild SAVV regurgitation is present. The nonanatomic repair should be considered a temporizing procedure, because the patients remain at
significant risk for right systemic ventricle dysfunction.
12.8.3. Recommendations for Surgical Intervention
CLASS IIa
CLASS I
1. For patients with unrepaired CCTGA, cardiac catheterization
can be effective to assess the following:
a. Hemodynamic status in the setting of arrhythmia. (Level of
Evidence: C)
b. Unexplained SV dysfunction, to define the degree of systemic AV valve regurgitation, degree of intracardiac shunting, and coronary artery anatomy. (Level of Evidence: C)
c. Unexplained volume retention or cyanosis, especially when
noninvasive assessment of pulmonary outflow obstruction is
limited. (Level of Evidence: C)
operations for patients with CCTGA for the following indications:
a. Unrepaired CCTGA and severe AV valve regurgitation. (Level
of Evidence: B)
b. Anatomic repair with atrial and arterial level switch/Rastelli
repair in cases in which the left ventricle is functioning at
systemic pressures. (Level of Evidence: B)
c. Simple VSD closure when the VSD is not favorable for
LV-to-aorta baffling or is restrictive. (Level of Evidence: B)
d. LV–to–pulmonary artery conduit in rare cases with LV dysfunction and severe LV outflow obstruction. (Level of Evidence: B)
e. Evidence of moderate or progressive systemic AV valve
regurgitation. (Level of Evidence: B)
Combined with noninvasive imaging techniques, diagnostic and interventional cardiopulmonary catheterization play
important roles in the management of many adults with
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f. Conduit obstruction with systemic or nearly systemic RV
pressures and/or RV dysfunction after anatomic repair.
g. Conduit obstruction and systemic or suprasystemic LV
pressures in a patient with nonanatomic correction. (Level
of Evidence: B)
h. Moderate or severe AR/neo-AR and onset of ventricular
dysfunction or progressive ventricular dilatation. (Level of
Evidence: B)
Indications for surgery in patients who have undergone
previous operations include repair or replacement of the
SAVV when a nonanatomic repair has been done previously,
conduit replacement in patients who had a Rastelli-type
anatomic repair, and resection of LV outflow obstruction in
the same group. Aortic valve and mitral valve repair/replacement are occasionally required in patients who have undergone anatomic repair. AR is seen more commonly in patients
who underwent pulmonary artery banding before ASO as part
of staged anatomic repair.
Surgery for patients with CCTGA, whether or not they
have had previous surgery, should be done at a center with
experience in surgery for ACHD patients and by a surgeon
with experience performing these types of operations who is
familiar with the anatomic variability and atrium-level switch
procedures.
The following are problems and pitfalls for patients with
corrected transposition:
●
●
●
Failure to make the diagnosis
Late referral in the setting of severe SAVV regurgitation
and SV dysfunction
Progression of SAVV regurgitation and SV dysfunction
after implantation of a pacemaker.
12.9. Arrhythmias/Pacemaker/
Electrophysiology Testing
CCTGA is associated with displacement of the AV node
away from Koch’s triangle to an anterior/superior position
within the right atrium (180). Functional properties of these
displaced conduction tissues can be suboptimal. Spontaneous
complete heart block may be present from birth in approximately 4% of cases (600), and the conduction tissues are not
infrequently traumatized during attempts at surgical repair. In
addition, progressive deterioration in AV conduction can
occur throughout life, with an estimated risk of spontaneous
heart block of 2% per year (591). The status of AV conduction must be monitored regularly with ECG and periodic
Holter monitoring in adults with CCTGA. Accessory pathways are also somewhat common in this condition, particularly when there is Ebstein malformation of the left-sided
tricuspid valve (143).
Pacing may also be associated with septal shift, which may
exacerbate SV dilatation and cause worsening of SAVV
regurgitation. It is probably prudent, therefore, to have more
frequent clinical and echocardiographic monitoring in an
unoperated patient after pacemaker implantation (605).
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12.10. Recommendations for Postoperative
Care
CLASS I
1. Patients with prior repair of CCTGA should have regular
follow-up with a cardiologist with expertise in ACHD. (Level of
Evidence: C)
2. Echocardiography-Doppler study and/or MRI should be performed yearly or at least every other year by staff trained in
imaging complex CHD. (Level of Evidence: C)
Regular follow-up (usually annually) is necessary (606),
with particular emphasis on the following:
●
●
●
●
●
●
●
Function of the SV
Maintenance of sinus rhythm when possible
Function of the SAVV or SAVV prosthesis if present
Function of the pulmonary conduit or prosthesis
Residual septal defects
Development or progression of AR
Degree of PAH, if any.
Some patients have had previous repair in childhood for
lesions that were hemodynamically significant. One study of
111 children having surgical repair reported an early mortality of 16% and a 10-year survival of 67% (607). SV
dysfunction and arrhythmias are the dominant presenting
features. Some patients may have symptoms from obstruction
of an LV–to–pulmonary artery valved conduit.
Prophylaxis
CLASS IIa
or perforation of the oral mucosa is reasonable in those with
CLASS III
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CLASS I
1. All women with CCTGA (whether repaired or not) should seek
counseling from a cardiologist with expertise in ACHD before
proceeding with a pregnancy. (Level of Evidence: C)
Pregnancy counseling must be given by physicians with
expertise in ACHD who are familiar with the hemodynamic
changes of pregnancy. The volume load of pregnancy may
pose too great a burden for a compromised SV, particularly
with associated SAVV regurgitation. A careful and comprehensive clinical evaluation should be performed when pregnancy is contemplated. This should include a careful history,
clinical examination, ECG, chest x-ray, and an assessment of
the hemodynamics, presence or absence of valvular lesions,
and ejection fraction. This should be evaluated with echocardiography and/or MRI study. An exercise test is helpful in
determining the functional capacity of patients, and in general, it is unlikely pregnancy will be well tolerated if the
functional aerobic capacity is less than 75% of predicted.
The outcomes of 60 pregnancies in 22 women have been
reported (608). There were 50 live births (83%), with a
miscarriage rate of 16%. None of the offspring had CHD.
Only 1 patient developed heart failure in the third trimester of
pregnancy related to SAVV regurgitation. She required
SAVV replacement 2 months after delivery. One of the
patients in this series had 12 pregnancies and was still alive at
80 years of age. In general, patients with an SV ejection
fraction less than 40% and more than mild SAVV regurgitation are unlikely to have a successful pregnancy. Similar
results were reported in a smaller series by Therrien et al
(609) with a 60% live birth rate. One cyanotic patient
developed increasing cyanosis, and 1 patient had a stroke.
12.10.3. Activity
Exercise guidelines should be based on those provided in the
36th Bethesda Conference (Task Force 2 on CHD) (49). In
general, modest aerobic activity and maintenance of cardiovascular fitness should be encouraged, but anaerobic exercise
should be avoided.
13. Ebstein’s Anomaly
13.1. Definition
Ebstein’s anomaly is a rare congenital malformation that accounts for approximately 1% of all congenital defects (610 –
612). It encompasses a wide spectrum of anatomic and functional abnormalities of the morphological tricuspid valve and
right ventricle.
at centers with expertise in the care of ACHD and Ebstein’s
anomaly.
13.2.1. Pediatric Presentation
Neonates with Ebstein’s anomaly may present with cardiomegaly, congestive heart failure, and cyanosis. Some will
improve spontaneously, because PVR normally falls during
the first week of life; however, 20% to 40% of all neonates
diagnosed with Ebstein’s anomaly will not survive 1 month,
and fewer than 50% will survive to 5 years of age (613,614).
The younger the age at presentation, the more likely it is that
a hemodynamic problem exists. Predictors of poor outcome
in children and adults are New York Heart Association
functional class III or IV symptoms, a cardiothoracic ratio
greater than 65%, or atrial fibrillation. Symptomatic children
with Ebstein’s anomaly may have progressive right-sided
heart failure, but most will reach adolescence and adulthood.
13.2.2. Initial Adult Presentation
Patients with mild Ebstein’s anomaly may be asymptomatic
with no functional limitation. Survival to the ninth decade has
been reported (615). Electrophysiological rather than hemodynamic symptoms are more common in patients over the age
of 10 years at presentation. Patients with Ebstein’s anomaly
who reach late adolescence and adulthood often have an
excellent outcome (616).
When Ebstein’s anomaly presents in adults, the most
common symptoms include exercise intolerance with dyspnea, fatigue, symptomatic arrhythmias, and right-sided heart
failure. When an ASD or PFO is present, patients may be
cyanotic to a varying degree, particularly with exercise.
These patients are also at risk for a paradoxical embolism that
results in transient ischemic attack, stroke, or cerebral abscess. Occasionally, a significant left-to-right shunt may
occur (616). Exercise tolerance declines with age and lower
oxygen saturation at rest (617).
End-stage disease with severe TR and ventricular dysfunction may manifest as right-sided and less commonly leftsided heart failure. It may be precipitated by an arrhythmia
such as atrial fibrillation. Sudden cardiac death may occur
and has been attributed to atrial fibrillation with accelerated
conduction through an accessory pathway or from ventricular
arrhythmias.
Unoperated Patient
The disorder has the following features in common:
●
●
13.2. Clinical Course (Unoperated)
The clinical presentation of Ebstein’s anomaly depends on
the extent of tricuspid valve leaflet distortion, the size of the
right side of the heart, the presence/degree of valvular PS,
right atrial pressure, the degree of TR, and the presence or
absence of right-to-left shunt. The age at presentation depends on the degree of anatomic and hemodynamic derangements. Adults with Ebstein’s anomaly should be followed up
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●
●
●
●
●
Adherence of the tricuspid valve leaflets to the underlying
myocardium (failure of delamination)
Apical displacement of the septal and posterior leaflets of
the tricuspid valve below the AV junction in the right
ventricle
Atrialization and dilation of the inflow of the right ventricle
to varying degrees
Redundancy, tethering, and fenestrations of the anterior
tricuspid valve leaflet
Varying degrees of TR
Enlargement of the right atrium
Varying degrees of cyanosis.
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Associated lesions include the following:
●
●
●
●
●
●
More than 50% of patients have a shunt at the atrial level
with either a PFO or secundum ASD, which results in
varying degrees of cyanosis
One or more accessory conduction pathways, increasing
the risk of atrial tachycardias (approximately 25%)
VSD
Varying degrees of anatomic and physiological RVOT
obstruction
Occasionally, other anomalies such as mitral valve
prolapse
Abnormalities of LV morphology and function.
Patients With Ebstein’s Anomaly
CLASS I
1. All patients with Ebstein’s anomaly should have periodic evaluation in a center with expertise in ACHD. (Level of Evidence: C)
Patients with mild Ebstein’s anomaly may demonstrate minimal findings on physical examination other than a murmur.
The jugular venous pressure is often normal even in the
presence of severe TR because of the large and compliant
right atrium, which accepts all the regurgitant flow with
minimal pressure rise. There may be low cardiac output
manifesting as a low pulse volume and peripheral cyanosis.
Central cyanosis may be present due to a right-to-left shunt
through a PFO or ASD. The RV lift is subtle. On auscultation,
the first sound is loud, and there may be 1 or more systolic
clicks. The murmur of TR is holosystolic at the lower left
sternal border and increases on inspiration. End-stage disease
with severe TR and ventricular dysfunction may manifest as
right-sided heart failure.
All patients with Ebstein’s anomaly should have regular
follow-up in a center for congenital cardiology. Unoperated
patients need serial monitoring for features that suggest that
surgical intervention is required or medical therapy is indicated. An assessment of functional limitation should also be
performed.
The ECG is valuable in the diagnosis of Ebstein’s anomaly.
Preexcitation may be present, usually via a right bypass tract.
Multiple bypass tracts may also occur. The P waves are often
very tall and peaked (so-called Himalayan P waves). A QR
pattern is often seen in lead V1 and may extend to V4. QRS
duration is usually prolonged, with a right bundle-branch
block pattern, but is often “splintered,” followed by inverted
T waves.
13.4.3. Chest X-Ray
The chest x-ray may be nearly normal in mild cases and in
more severe cases shows severe enlargement. Right atrial
enlargement is prominent, with a “globular” cardiac contour
and clear lung fields. The great arteries are usually small, and
the aortic root is inconspicuous or absent.
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The diagnosis of Ebstein’s anomaly is most commonly
confirmed by TTE Doppler evaluation by a skilled echocardiographer, preferably with expertise in CHD. Echocardiography is the diagnostic test of choice and should document the
severity of the degree of right-sided cardiac enlargement, RV
dysfunction, and TR. This should also determine whether the
tricuspid valve has features that may allow it to be repaired.
The atrial septum should be evaluated for the presence of
ASD or PFO. Additional associated lesions should also be
sought. An assessment of LV function and other cardiac
valves should be performed.
TTE supplemented with intraoperative TEE usually provides sufficient data to permit operative intervention without
the need to obtain additional preoperative diagnostic structural information in patients with Ebstein’s anomaly (618 –
620). The diagnostic workup may require TEE to assess the
presence of an ASD or to delineate intracardiac anatomy in
patients with suboptimal TTE images.
Tomography
There is increasing interest in the use of MRI and CT in the
evaluation of patients with CHD; however, limited information is available on preoperative assessment by these modalities in Ebstein’s anomaly. MRI may supply important
preoperative information on cardiac structure and function in
the future (621– 623).
13.5. Recommendations for Diagnostic Tests
CLASS I
1. ECG, chest x-ray, and echocardiography-Doppler are recommended for the diagnostic evaluation of Ebstein’s anomaly in
adult patients. (Level of Evidence: C)
CLASS IIa
1. Pulse oximetry at rest and/or during exercise can be useful in
the diagnostic evaluation of Ebstein’s anomaly in adult patients. (Level of Evidence: C)
2. An electrophysiological study can be useful in the diagnostic
evaluation of Ebstein’s anomaly in adult patients if a supraventricular arrhythmia is documented or suspected (subsequent
radiofrequency catheter ablation should be considered if clinically
feasible). (Level of Evidence: C)
3. The following additional diagnostic tests can be useful for the
comprehensive evaluation of Ebstein’s anomaly in adult
patients:
a. Doppler TEE examination if the anatomic information is not
provided by transthoracic imaging. (Level of Evidence: B)
b. Holter monitoring. (Level of Evidence: B)
c. Electrophysiological study for history or ECG evidence of
accessory pathway(s). (Level of Evidence: B)
d. Coronary angiography when surgical repair is planned, if
there is a suspicion of coronary artery disease, and in men
35 years or older, premenopausal women 35 years or older
who have coronary risk factors, and postmenopausal
women. (Level of Evidence: B)
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Hemodynamic cardiac catheterization is rarely required in
patients with Ebstein’s anomaly before surgical intervention
is considered. In select high-risk patients, hemodynamic
assessment by cardiac catheterization may be helpful for risk
stratification. Coronary angiography should be performed
before surgical intervention if there is a concern about
coronary artery disease.
Cardiac disorders that cause TR and right-sided cardiac
chamber enlargement may be misdiagnosed as Ebstein’s
anomaly. Experienced echocardiographic assessment allows
differentiation between these entities. Ebstein’s anomaly is
characterized by apical displacement of the septal tricuspid
leaflet of more than 8 mm per m2 and the presence of a
redundant, elongated anterior tricuspid leaflet. Misdiagnoses
include tricuspid valve dysplasia, tricuspid valve prolapse,
traumatic changes of the tricuspid valve, arrhythmogenic RV
cardiomyopathy, tricuspid valve endocarditis, and carcinoid
heart disease (624). The severity of the TR may be underestimated because of the subtle physical findings and the
laminar tricuspid regurgitant flow on echocardiography.
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13.7. Recommendation for Catheter
Interventions for Adults With Ebstein’s
Anomaly
CLASS I
1. Adults with Ebstein’s anomaly should have catheterization
performed at centers with expertise in catheterization and
management of such patients. (Level of Evidence: C)
Few data are available regarding catheterization of the
adult with Ebstein’s anomaly. The adult with unrepaired
Ebstein’s anomaly may demonstrate a variable degree of
shunt-related cyanosis due to the combination of TR, RV
dysfunction, and a PFO or ASD. Rarely, in those with TR not
severe enough to warrant surgical repair, closure of the
atrium-level shunt may reduce cyanosis and improve functional capacity sufficiently to outweigh the theoretical risk to
RV function posed by removing the “pop-off” from the RV
and increasing its afterload. Few data are available regarding
transcatheter ASD closure in this setting.
13.7.1. Recommendation for Electrophysiology
Testing/Pacing Issues in Ebstein’s Anomaly
CLASS IIa
13.6.1. Recommendation for Medical Therapy
CLASS I
1. Anticoagulation with warfarin is recommended for patients
with Ebstein’s anomaly with a history of paradoxical embolus
or atrial fibrillation. (Level of Evidence: C)
Patients with mild forms of Ebstein’s anomaly may be
followed up medically for many years. Regular evaluation by
a cardiologist with expertise in CHD is recommended.
Particular attention should be given to the patient’s rhythm
status because of the high incidence of supraventricular
arrhythmia, which may require antiarrhythmic therapy or
electrophysiological intervention. Exercise testing facilitates
a more reliable assessment of functional capacity, because
many patients may believe themselves to be asymptomatic.
Progressive RV enlargement, RV dysfunction, and progressive TR should prompt consideration of surgical intervention,
particularly if the patient is cyanotic. The onset of peripheral
edema in this situation usually reflects advanced RV dysfunction. Diuretics may result in reduction of peripheral edema in
Ebstein patients with right-sided heart failure but will not
affect the fatigue and dyspnea related to low left-sided
cardiac output.
13.6.2. Physical Activity
Recommendations are summarized in the Task Force 1 report
on CHD (274). Adults with mild Ebstein’s anomaly, nearly
normal heart size, and no arrhythmias can participate in all
sports. Athletes with severe Ebstein’s anomaly are precluded
from sports unless the patient has undergone optimal repair
with the heart size being nearly normal and there is no history
of arrhythmias.
1. Catheter ablation can be beneficial for treatment of recurrent
supraventricular tachycardia in some patients with Ebstein’s
anomaly. (Level of Evidence: B)
Supraventricular tachycardia related to accessory pathways
is a frequent accompaniment of Ebstein’s anomaly (625).
Catheter ablation has become the most attractive treatment
for this condition, although the procedure can be quite
challenging. Overall, success rates are lower and recurrence
rates higher than those reported for ablation in a structurally
normal heart (141,143), in part because multiple accessory
pathways are present in nearly 50% of these patients (626).
Any patient suspected of having an accessory pathway should
undergo electrophysiology study before surgical repair, so
that the accessory pathway(s) may be localized and catheter
ablation attempted. If catheter ablation is unsuccessful or
deemed inappropriate for any reason, surgical interruption
can be performed in the operating room. For any patients with
history of atrial flutter, a right atrial Maze procedure can be
incorporated into the surgery, and for those with atrial
fibrillation, a biatrial Maze can be performed.
13.7.2. Recommendations for Surgical Interventions
CLASS I
tricuspid valve repair or replacement, with concomitant closure
of an ASD, when present, for patients with Ebstein’s anomaly
with the following indications:
a. Symptoms or deteriorating exercise capacity. (Level of
Evidence: B)
b. Cyanosis (oxygen saturation less than 90%). (Level of
Evidence: B)
c. Paradoxical embolism. (Level of Evidence: B)
d. Progressive cardiomegaly on chest x-ray. (Level of Evidence: B)
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e. Progressive RV dilation or reduction of RV systolic function.
concomitant arrhythmia surgery in patients with Ebstein’s
anomaly and the following indications:
a. Appearance/progression of atrial and/or ventricular arrhythmias not amenable to percutaneous treatment. (Level
of Evidence: B)
b. Ventricular preexcitation not successfully treated in the
electrophysiology laboratory. (Level of Evidence: B)
3. Surgical rerepair or replacement of the tricuspid valve is
recommended in adults with Ebstein’s anomaly with the following indications:
a. Symptoms, deteriorating exercise capacity, or New York
Heart Association functional class III or IV. (Level of Evidence: B)
b. Severe TR after repair with progressive RV dilation, reduction of RV systolic function, or appearance/progression of
atrial and/or ventricular arrhythmias. (Level of Evidence: B)
c. Bioprosthetic tricuspid valve dysfunction with significant
mixed regurgitation and stenosis. (Level of Evidence: B)
d. Predominant bioprosthetic valve stenosis (mean gradient
greater than 12 to 15 mm Hg). (Level of Evidence: B)
e. Operation can be considered earlier with lesser degrees of
bioprosthetic stenosis with symptoms or decreased exercise tolerance. (Level of Evidence: B)
The primary operation generally consists of closure of any
interatrial communications; antiarrhythmia procedures such
as surgical division of accessory conduction pathways, cryoablation of AV node reentry tachycardia, or Maze procedure;
and tricuspid valve surgery. The tricuspid valve is repaired
when feasible, and tricuspid valve replacement is performed
with a mechanical or heterograft bioprosthesis when repair is
not feasible or the repair result is not satisfactory. A right
reduction atrioplasty is often performed.
A bidirectional cavopulmonary anastomosis is considered
in selected patients with severe RV dysfunction and preserved LV function with low left atrial pressure. The singleventricular–Fontan pathway may be considered for profound
RV dysfunction most often when operation is required during
infancy. Heart transplantation is considered when significant
LV dysfunction has occurred (ejection fraction less than
30%) and important symptoms of heart failure are present.
Reoperation usually requires tricuspid valve replacement
or rereplacement (tissue or mechanical). Rerepair of the
tricuspid valve is rarely successful. Other procedures are
performed as with the primary operation. A concomitant
Maze procedure may be performed for intermittent or chronic
atrial fibrillation/flutter. Congenital heart surgeons should
perform operations for patients with Ebstein’s anomaly. The
management of patients should be in tertiary CHD centers or
children’s hospitals with experienced medical and surgical
personnel.
13.7.3. Postoperative Findings
Operated patients with Ebstein’s anomaly require lifelong
specialized surveillance for recurrent native tricuspid valve
dysfunction after repair, prosthetic valve degeneration after
replacement, atrial and ventricular arrhythmias, and ventric-
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ular dysfunction (627). Postoperative exercise tolerance is
generally significantly improved compared with preoperative
exercise tolerance, especially in patients with an ASD. Age,
gender, and heart size influence postoperative exercise tolerance (628).
13.7.4. Expected Postoperative Course
Early mortality is approximately 5% to 10% in experienced
centers. Late survival is favorable and is 92% at 10 years
postoperatively. Late survival after reoperation for recurrent
TR or bioprosthetic deterioration is similar (80% at 15 years).
Tricuspid valve replacement can be associated with a high
incidence of complete AV block, especially in centers with
less experience.
The problems and pitfalls associated with the management of
adults with Ebstein’s anomaly are as follows:
●
●
●
●
●
●
Patients with Ebstein’s anomaly may be referred for
percutaneous or surgical ASD closure; however, the presence of Ebstein’s anomaly may alter the recommendation
for intervention.
Percutaneous ablation of an accessory pathway should be
performed with caution in patients with Ebstein’s anomaly
and an interatrial communication with right-to-left shunt
because of the risk of paradoxical embolus.
The presence of multiple accessory pathways should raise
the suspicion for Ebstein’s anomaly.
Patients with Ebstein’s anomaly and marked cardiomegaly
may complain of few symptoms despite marked limitation.
Exercise testing will demonstrate functional limitation and
should be included as part of the regular assessment of
these patients. Exercise testing should include monitoring
of oxygen saturation, because exercise-induced cyanosis
may occur.
Patients with newly diagnosed Ebstein’s anomaly may be
told they have concomitant PAH, particularly when cyanosis and right-sided heart enlargement are present. This is
usually a misdiagnosis, because PAH is very rare among
Ebstein patients.
Other tricuspid valve disorders may be misdiagnosed as
Ebstein’s anomaly (refer to Section 13.5.2, Problems and
Pitfalls).
13.9. Recommendation for Reproduction
CLASS I
1. Women with Ebstein’s anomaly should undertake prepregnancy counseling with a physician with expertise in ACHD.
Most women with Ebstein’s anomaly can have a successful
pregnancy with proper care, but there is an increased risk of
low birth weight and fetal loss if significant cyanosis is
present. The risk of CHD in the offspring (in the absence of
a family history) is approximately 6% (629).
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13.10. Recommendation for Endocarditis
Prophylaxis
CLASS IIa
manipulation of gingival tissue or the periapical region of the
teeth or perforation of the oral mucosa is reasonable in
cyanotic patients with Ebstein’s anomaly and postoperative
patients with a prosthetic cardiac valve. (Level of Evidence: C)
Antibiotic prophylaxis is usually unnecessary in the acyanotic unoperated patient (refer to Section 1.6, Recommendations for Infective Endocarditis, for additional information).
14. Tricuspid Atresia/Single Ventricle
14.1. Definition
This section will focus on conditions that are not amenable to
biventricular repair and will include the various types of
so-called univentricular hearts, such as tricuspid atresia,
mitral atresia, double-inlet left ventricle, single ventricle,
hypoplastic right ventricle or left ventricle, and heterotaxia
syndromes. The scope of these guidelines does not allow
detailed anatomic descriptions of all of these conditions, but
excellent descriptions can be found elsewhere (630).
Some associated lesions include:
●
●
●
●
●
●
●
●
●
●
●
●
BAV, valvular AS or SubAS, valvular PS or subvalvular
PS, pulmonary atresia
Coarctation, interrupted aortic arch
VSD, ASD, PDA, AV septal defect
Ventricular outflow obstruction secondary to small VSD in
tricuspid atresia with TGA, bulboventricular foramen narrowed in single ventricle
AV valve stenosis; regurgitation; overriding, straddling
valves
Pulmonary artery stenosis, hypoplasia, absence on 1 side
Partial or total anomalous pulmonary venous connection
Absent infrahepatic inferior vena cava with azygous or
hemiazygous connection
Left superior vena cava, absent innominate vein, absent
right superior vena cava, superior vena cava or inferior
vena cava connection to the left atrium
Left superior vena cava to coronary sinus (unroofed) with
right-to-left shunt
Stenotic or atretic orifice of coronary sinus
Polysplenia or asplenia.
14.2. Clinical Course (Unoperated and
Palliated)
Patients usually fall into 2 general categories. The first
category includes those patients with no anatomic restrictions
to pulmonary blood flow with early postnatal development of
a large left-to-right shunt and symptoms of congestive heart
failure. This condition may be exacerbated by obstructions to
systemic blood flow due to hypoplasia of the aortic arch,
including coarctation of the aorta with or without obstruction
at the VSD or bulboventricular foramen in patients with
double-inlet left ventricle or tricuspid atresia with TGA. Such
e95
patients may survive into adulthood with pulmonary vascular
disease (refer to Section 9, Pulmonary Hypertension/Eisenmenger physiology). Surgical treatment is usually needed
early in life to decrease any systemic outflow obstruction and
decrease pulmonary flow and pressure. Coarctation repair and
pulmonary artery banding are operations frequently performed in infancy for this patient group.
The second major clinical presentation is severe cyanosis
due to obstruction to pulmonary flow, frequently caused by
valvular or subvalvular PS or atresia. These patients usually
undergo a systemic–to–pulmonary artery shunt procedure,
such as a modified Blalock-Taussig shunt, early in infancy to
augment pulmonary flow. A small number of patients, usually with the right-isomerism type of heterotaxia, can also
have total anomalous pulmonary venous connection, which
can be obstructed. These patients usually require repair of the
total anomalous pulmonary venous connection at the time of
placement of a systemic arterial shunt.
A small number of patients will present with mild cyanosis
and no congestive heart failure. These patients have sufficient
PS to limit pulmonary flow to levels that do not cause heart
failure symptoms but is adequate to prevent severe hypoxemia. The vast majority of adults with these conditions will
have undergone previous palliation with some type of systemic–to–pulmonary artery shunt, cavopulmonary connection
(bidirectional Glenn), or 1 of the modifications of the Fontan
operation (631,632).
Unoperated or Palliated Patient
14.3.1. Presentation
Those with no prior operation or with only a systemic–to–
pulmonary artery shunt or cavopulmonary shunt can present
with cyanosis, congestive heart failure, arrhythmia, complete
AV block, stroke, worsening exercise ability, bacterial endocarditis, or thromboembolism, or they may seek a physician’s
advice because of pregnancy.
Patients who have not had a Fontan operation usually will
have cyanosis, clubbing, increased precordial activity, and a
single S2. Possible murmurs include continuous murmurs of
aorticopulmonary shunts, systolic murmurs of AV valve
regurgitation, systolic murmurs of LV or RV outflow obstruction, and diastolic murmurs of semilunar valve regurgitation.
Those with ventricular dysfunction may have an S3, jugular
venous distention, and hepatomegaly. Brachial pulses may be
absent on the side of a prior Blalock-Taussig shunt and in the
left arm after a subclavian flap procedure for coarctation.
Scoliosis is common.
The ECG is useful to detect rhythm disturbances. Any patient
with unexplained tachycardia may have IART (also called
slow atrial flutter). Fixed ventricular rates of 90 to 120 beats
per minute are common in IART with 2:1 AV conduction and
only 1 P wave visible, with the second P wave buried in the
QRS or T wave. Patients with right or left atrial enlargement
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or prior atrial surgical incisions/sutures are most at risk for
this complication.
Right or left atrial enlargement is common, as is RV
hypertrophy, LV hypertrophy (depending on the morphology
of the underlying single ventricle), and biventricular hypertrophy patterns. Increased QRS voltage, an RS pattern in all
precordial leads, abnormal septal depolarization with no Q in
V6, and intraventricular conduction delays are common
variants.
14.3.4. Chest X-Ray
Cardiac enlargement on chest x-ray correlates with significant RV or LV enlargement in the absence of pericardial
effusion. Dextrocardia or mesocardia is common. Pulmonary
vascularity is variable. Scoliosis is common; rib abnormalities are also common on the side of a prior thoracotomy.
Echocardiography is the major imaging modality. Listed
below are the data to be obtained with a complete echocardiographic assessment of adults with tricuspid atresia/single
ventricle:
●
●
●
●
●
●
●
●
Abdominal/atrial situs
Cardiac apex position, AV and ventriculoarterial connections, ventricular and arterial looping
Systemic venous and pulmonary venous anatomy and flow
patterns
Right-to-left shunt and left-to-right shunt pathways
Valvular abnormalities/outflow obstruction
ASD/VSD size, numbers, and location
Ventricular function/hypertrophy
Aortic/pulmonary artery abnormalities, including coarctation, pulmonary artery size, and the presence or absence of
stenosis.
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b. Assess and eliminate systemic–to–pulmonary vein collaterals. (Level of Evidence: C)
c. Assess and eliminate systemic–to–pulmonary artery connections. (Level of Evidence: C)
d. For adults with systemic-to-pulmonary shunts, the potential
for perioperative transcatheter shunt exclusion should be
examined. (Level of Evidence: C)
This would include patients previously palliated with a
systemic-to-pulmonary shunt and the rare patient who has not
had prior operation. Data to be obtained include intracardiac,
pulmonary artery, and aortic pressures; oxygen saturations;
and estimations of pulmonary and systemic blood flow and
resistances. Imaging data would include angiograms of systemic venous anatomy, great vessel anatomy (specifically,
anatomy of the pulmonary arteries and estimations of ventricular volume), hypertrophy, and ejection fraction. Coronary angiography is needed for older patients and those with
questionable ischemia or coronary anomalies. Assessment of
venous and arterial pulmonary collaterals is also important,
because these may be amenable to coil occlusion.
14.4. Recommendation for Surgical Options
for Patients With Single Ventricle
CLASS I
operations for single-ventricle anatomy or physiology. (Level of
Evidence: C)
Surgical options for the treatment of adults with tricuspid
atresia/single ventricle are outlined below.
Systemic–to–pulmonary artery shunt:
●
TEE may be needed if all information is not available from
TTE, historical data, or other imaging modalities.
Computed Tomography
These modalities can be extremely useful for imaging systemic and pulmonary arterial and venous anatomy and intracardiac complex anatomy and for determining ventricular
volumes, ejection fraction, regurgitant fraction, and degree of
hypertrophy. MRI or CT data can obviate the need for
catheterization imaging in many situations, as well as prepare
the cardiologist/interventionalist for the catheterization in an
optimal manner.
14.3.7. Recommendation for Catheterization Before
Fontan Procedure
CLASS I
1. In the evaluation of hemodynamics to assess the potential for
definitive palliation of unoperated or shunt-palliated adults with
univentricular hearts, catheterization is indicated to:
a. Assess the nature of pulmonary artery obstruction, with
potential to restore maximal continuous, effective, unimpeded systemic venous flow to the maximal number of
pulmonary artery segments. (Level of Evidence: C)
Often from the ascending aorta to the main or right
pulmonary artery; rarely performed as an isolated procedure, and only if a cavopulmonary connection is
contraindicated.
Bidirectional Glenn (bidirectional cavopulmonary anastomosis [BDCPA]):
●
Most commonly performed in infancy or early childhood
as a staged procedure toward the Fontan completion; this
provides a stable source of pulmonary blood flow without
volume loading the SV; it generally should not be the sole
source of pulmonary blood flow (except as the stage II
procedure for hypoplastic left-sided heart syndrome).
BDCPA plus additional pulmonary blood flow:
●
The most reliable source of additional pulmonary blood
flow is via the native RVOT with native PS or with a
pulmonary artery band. A concomitant systemic–to–pulmonary artery shunt may be added if an increase in
systemic oxygenation is required, but this is at the expense
of an increase in volume load on the SV and often elevated
superior vena cava pressure.
Single-ventricle repair:
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Table 17.
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Late Outcome Results After Repair of Tricuspid Atresia/Single-Ventricle Disease
Intervention
Survival Rate
Complications
Systemic-PA shunt
50% at 20 years
Systemic ventricular dilatation and failure; atrial fibrillation/flutter
BDCPA
50% at 20 years
Progressive cyanosis may occur because of relatively greater
IVC flow vs SVC flow or from the development of pulmonary
arteriovenous fistulas
BDCPA plus additional pulmonary
blood flow
Fontan palliation
N/A
Volume loading of the systemic ventricle occurs with
systemic-to-PA shunt
Approximately 90% at 10 years in
the absence of risk factors; 80%
at 10 years for all patients
Late complications include atrial arrhythmias, thrombus
formation, PLE, progressive systemic ventricular failure,
progressive AV valve regurgitation
1.5-Ventricle repair
N/A
N/A
2-Ventricle repair
N/A
Results may be inferior to a simple 1- or 1.5-ventricle repair if
the 2-ventricle repair requires complex intraventricular tunnel
closure of VSD or an extracardiac conduit or AV valve
replacement
Heart transplantation
85% to 90% at 3 years, 50% to
70% at 10 years
Side effects of immunosuppression; lymphomas
Heart-lung transplantation
65% at 1 year; 50% at 5 years
Bronchiolitis obliterans
PA indicates pulmonary artery; BDCPA, bidirectional cavopulmonary anastomosis; IVC, inferior vena cava; SVC, superior vena cava; N/A, not
available; PLE, protein-losing enteropathy; AV, atrioventricular; and VSD, ventricular septal defect.
●
When the rudimentary pulmonary ventricle is less than
30% of its normal volume, a Fontan type of operation is
performed. The operation has gone through many modifications; each allows systemic venous return to enter the
pulmonary circulation directly.
Modified Fontan procedures:
●
●
●
●
●
●
Extracardiac conduit–BDCPA plus conduit from inferior
vena cava to right pulmonary artery/main pulmonary
artery
Intra-atrial conduit–BDCPA plus intra-atrial conduit from
inferior vena cava to right pulmonary artery/main pulmonary artery; preferred when the ventricular mass would lie
on top of an extracardiac conduit, eg, isolated dextrocardia
or isolated levocardia with situs inversus
Intracardiac lateral tunnel plus BDCPA
Intracardiac lateral tunnel
Atriopulmonary connection (rarely used in the current era)
Fenestration between systemic venous pathway and left
atrium.
1.5-Ventricle repair:
A term used to describe a procedure for cyanotic CHD
performed when the pulmonary ventricle is insufficiently
developed to accept the entire systemic venous return. A
BDCPA is constructed to direct superior vena cava blood
directly into the pulmonary arteries while the inferior caval
blood is directed to the lungs via the small pulmonary
ventricle.
2-Ventricle repair:
A term used to describe a procedure for cyanotic CHD
with a common ventricle or adequately sized pulmonary
ventricles and SVs that communicate via a VSD. The
pulmonary and systemic circulations are surgically septated by placement of an interventricular patch (for com-
mon ventricle) or VSD patch (for separate pulmonary and
SV cavities).
Transplantation:
●
Heart transplantation and heart/lung transplantation are
reserved for severe SV failure with or without PAH when
there is no conventional surgical option.
The Fontan operation is a palliative procedure for patients
with a functional or anatomic single ventricle or complex
anomaly considered unsuitable for a biventricular repair. The
systemic venous return is directed to the pulmonary artery,
usually without use of a subpulmonary ventricle. The original
classic Glenn anastomosis followed by direct atriopulmonary
connection is seldom performed today. Many adult patients
currently seen in congenital heart clinics, however, have had
a direct atriopulmonary connection from either the right
atrium or atrial appendage to the pulmonary arteries. Such
patients are particularly vulnerable to right atrial dilation,
atrial arrhythmias, and thrombus formation. These operations
have been largely replaced by a BDCPA followed by a lateral
tunnel or extracardiac conduit (633– 635). A fenestration
between the systemic venous pathway and left atrium may be
added at the time of the primary Fontan procedure or Fontan
conversion or after the Fontan procedure when PLE has
developed. Late outcome results are summarized in Table 17.
14.5. Recommendation for Evaluation and
Follow-Up After Fontan Procedure
CLASS I
1. Lifelong follow-up is recommended for patients after a Fontan
type of operation; this should include a yearly evaluation by a
cardiologist with expertise in the care of ACHD patients. (Level
of Evidence: C)
All patients should have follow-up with a cardiologist who
has expertise in ACHD. The frequency, although typically
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annual, may be determined by the extent and degree of
residual abnormalities. Long-term problems include atrial
arrhythmias and right atrial thrombus, especially common in
direct atrium–to–pulmonary artery connections; ventricular
dysfunction and edema; need for reoperation; hepatic congestion and dysfunction; and PLE.
Ten-year survival after a Fontan operation is 90%, depending on the number of risk factors present at the time of the
initial Fontan procedure (634). If PLE develops, the 5-year
survival is decreased to approximately 50%. The usual causes
of late death are those related to SV failure, arrhythmias,
reoperation, and PLE.
After a successful Fontan operation, most patients have no
murmurs, and the second sound is single. Mild jugular venous
distention (usually nonpulsatile) is common after Fontan
procedures, even in the absence of congestive heart failure.
Significant jugular venous distension and hepatomegaly
should raise the suspicion of Fontan obstruction. Such patients frequently will have mild cyanosis that is accentuated
with any aerobic activity. In the presence of a prior Glenn
procedure, jugular venous pressure will not reflect right atrial
pressure, and Fontan obstruction may be overlooked.
The ECG has the same features as in the unoperated patient,
although atrial arrhythmias are even more likely to occur in
the postoperative patient.
14.6.3. Chest X-Ray
The chest x-ray should show normal heart size if the
hemodynamics are satisfactory, and pulmonary vascularity
should be normal. If pleural effusions are present, this
indicates the need for a workup for hemodynamic abnormalities or PLE (636).
14.6.4. Recommendation for Imaging
CLASS I
1. All patients with prior Fontan type of repair should have
periodic echocardiographic and/or magnetic resonance examinations performed by staff with expertise in ACHD. (Level of
Evidence: C)
Echocardiography is the cornerstone of the postoperative
evaluation, and a comprehensive examination as outlined
previously (refer to Section 14.3.5, Echocardiography) is
necessary. Spontaneous contrast is often seen in the Fontan
circuit and represents slow flow in the pathway. It is important, however, to image the Fontan pathway in its entirety,
and TEE is often necessary to accomplish this. In addition,
TEE is needed to rule out right atrial thrombus. The presence
or absence of a Fontan fenestration should be sought, and if
present, gradient across the fenestration should be measured.
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14.7. Recommendation for Diagnostic and
Interventional Catheterization After
Fontan Procedure
CLASS I
1. Catheterization of adults with a Fontan type of repair of
single-ventricle physiology should be performed in regional
centers with expertise in ACHD. (Level of Evidence: C)
For adults after Fontan palliation, cardiac catheterization,
often assisted by contrast echocardiography, is indicated to
investigate and potentially treat unexplained volume retention, fatigue or exercise limitation, atrial arrhythmia, or
cyanosis and hemoptysis. To further investigate volume
retention or fatigue in the adult Fontan survivor, catheterization is directed at assessment of systemic AV valve regurgitation, ventricular dysfunction (both systolic and diastolic),
cardiac output, pulmonary artery anatomy (including the
branch pulmonary arteries), and pulmonary resistance. Any
degree of obstruction in the nonpulsatile Fontan circuit is
important. Systemic arterial–to–pulmonary venous or systemic arterial–to–pulmonary arterial connections may be
defined and occluded if necessary. On unusual occasions, the
Fontan pathway pressure may be sufficiently high and without potential for relief to warrant the creation of a Fontan
baffle fenestration.
To further investigate oxygen-unresponsive hypoxemia in
the adult Fontan survivor, catheterization is directed at
assessing and potentially relieving (when applicable) the
following: persistent Fontan fenestration; systemic venous–
to–pulmonary venous collaterals; pulmonary arteriovenous
malformations; and the cause of volume retention, increasing
Fontan pathway pressure and resistance, and thereby worsening right-to-left shunting.
Evaluation of postoperative Fontan patients with worsening
cyanosis (oxygen saturation usually 90% or less at rest and
decreasing with exercise):
In addition to pressure and resistance data, an angiographic
search for atrial right-to-left shunts and shunts from the
inferior cava, superior cava, and innominate vein to the left
atrium should be performed, as well as a search for pulmonary arteriovenous malformations. Interventional closure of
residual shunts by coils or ASD devices is often possible.
14.7.1. Evaluation of Patients With Protein-Losing
Enteropathy
In addition to pressure and resistance data, an angiographic
search for any obstruction to pulmonary flow, such as
pulmonary artery or venous stenosis or AV valve stenosis or
regurgitation, should be performed. Aortography should also
be performed to determine whether prominent aortic-pulmonary collateral vessels are causing increased resistance to
effective pulmonary flow. Creation or enlargement of an
ASD may be needed to decrease central venous pressure.
To evaluate patients with elevated pulmonary artery
pressure for pulmonary artery modulating therapies or
transplantation:
In addition to obtaining pressure and resistance data before
and after acute vasodilator testing, imaging of systemic and
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pulmonary arteries and venous anatomy is essential to determine potential problems and suggest the need for innovative
surgical techniques that would be required for transplant
surgery.
4. New-onset atrial tachyarrhythmia should prompt a comprehensive
noninvasive imaging evaluation to identify associated atrial/
baffle thrombus, anatomic abnormalities of the Fontan pathway,
or ventricular dysfunction. (Level of Evidence: C)
The major problems and pitfalls in the management of adults
after a Fontan procedure are listed below (375,637):
CLASS I
●
●
●
●
●
●
●
●
●
●
●
●
●
●
●
●
Worsening cyanosis caused by new right-to-left shunts or
pulmonary arteriovenous fistulas, most frequently seen
after cavopulmonary connection
Unrecognized arrhythmia: atrial reentry tachycardia with
2:1 block and modest tachycardia (rates frequently less
than 150 beats per minute)
Unrecognized outflow obstruction at the bulboventricular
foramen or VSD with tricuspid atresia and d-TGA
Edema due to unrecognized PLE
PLE associated with small gradients in the Fontan circuit
Attempts at central line or Swan placement by physicians
unfamiliar with the patient’s complex venous anatomy
Right pulmonary vein obstruction by enlarged right atrium
in patients with right atrium–to–pulmonary artery Fontan
connection
Need for meticulous intravenous line care to avoid air
embolism to systemic circulation in those with a residual
right-to-left shunt
Falsely low blood pressure recorded in extremity with prior
Blalock-Taussig shunt
Cirrhosis in post-Fontan patients
The combination of hepatic distension and jugular venous
distension raises the possibility of Fontan obstruction
In the presence of a Glenn shunt, the jugular venous
pressure may be normal, and Fontan obstruction may
manifest as hepatic distension, and later, peripheral edema
Ascites, peripheral edema, and pleural effusions should
prompt a search for PLE
The onset of atrial arrhythmias should prompt a search for
Fontan obstruction
Patients with atrial arrhythmias should be given anticoagulation therapy
Patients with residual ASDs/fenestrations should be given
anticoagulation therapy.
Strategies for the Patient With Prior
Fontan Repair
CLASS I
1. Management of patients with prior Fontan repair should be
coordinated with a regional ACHD center. Local cardiologists,
internists, and family care physicians should develop ongoing
relationships with such a center with continuous availability of
specialists. (Level of Evidence: C)
2. At least yearly follow-up is recommended for patients after
Fontan repair. (Level of Evidence: C)
3. Arrhythmia management is frequently an issue, and consultation with an electrophysiologist is recommended as a vital part
of care. (Level of Evidence: C)
1. Warfarin should be given for patients who have a documented
atrial shunt, atrial thrombus, atrial arrhythmias, or a thromboembolic event. (Level of Evidence: C)
CLASS IIa
1. It is reasonable to treat SV dysfunction with ACE inhibitors and
diuretics. (Level of Evidence: C)
Ventricular dysfunction, congestive heart failure, symptomatic arrhythmias, thromboembolism, and edema are all possible
findings on long-term follow-up and require management directed by an ACHD center as defined in these guidelines. Many
patients require afterload reduction with ACE inhibitors. Many
adult survivors also require diuretic therapy. Antiarrhythmic
drugs may be necessary to control atrial arrhythmias, although
caution must be used with dosage, because sinus node dysfunction is common, and if AV block ensues, venous access for
pacing may not be possible depending on the Fontan anatomy.
Additionally, for those patients with dysfunction of the single
ventricle, negative inotropic drugs should be avoided. Anticoagulants should be given to all patients with atrial arrhythmias
even if atrial thrombus has not been documented. Warfarin
should also be given to those with a residual ASD, especially
those with dual atrial pulmonary connections, spontaneous right
atrial contrast on echocardiography, and an ejection fraction less
than 40%.
Persistent edema, pleural effusions, and/or ascites should
prompt a search for PLE. This may be confirmed by documentation of low serum albumin and by the presence of an elevated
alpha 1 antitrypsin level in the stool. Medical treatment for PLE
is challenging; patients should be managed at an ACHD center
and merit consideration for cardiac transplantation.
14.9. Recommendations for Surgery for
Adults With Prior Fontan Repair
CLASS I
operations on patients with prior Fontan repair for single-ventricle
physiology. (Level of Evidence: C)
2. Reoperation after Fontan is indicated for the following:
a. Unintended residual ASD that results in right-to-left shunt
with symptoms and/or cyanosis not amenable to transcatheter closure. (Level of Evidence: C)
b. Hemodynamically significant residual systemic artery–to–
pulmonary artery shunt, residual surgical shunt, or residual
ventricle–to–pulmonary artery connection not amenable to
transcatheter closure. (Level of Evidence: C)
c. Moderate to severe systemic AV valve regurgitation. (Level
of Evidence: C)
d. Significant (greater than 30-mm Hg peak-to-peak) subaortic
obstruction. (Level of Evidence: C)
e. Fontan pathway obstruction. (Level of Evidence: C)
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f. Development of venous collateral channels or pulmonary
arteriovenous malformation not amenable to transcatheter
management. (Level of Evidence: C)
g. Pulmonary venous obstruction. (Level of Evidence: C)
h. Rhythm abnormalities, such as complete AV block or sick
sinus syndrome, that require epicardial pacemaker insertion. (Level of Evidence: C)
i. Creation or closure of a fenestration not amenable to
transcatheter intervention. (Level of Evidence: C)
CLASS IIa
1. Reoperation for Fontan conversion (ie, revision of an atriopulmonary connection to an intracardiac lateral tunnel, intra-atrial
conduit, or extracardiac conduit) can be useful for recurrent
atrial fibrillation or flutter without hemodynamically significant
anatomic abnormalities. A concomitant Maze procedure should
also be performed. (Level of Evidence: C)
CLASS IIb
1. Heart transplantation may be beneficial for severe SV dysfunction or PLE. (Level of Evidence: C)
Reoperation includes valve repair or replacement for
systemic AV valve regurgitation, resection of subaortic
obstruction, closure of an unintended residual shunt, revision of Fontan pathway obstruction, or Fontan conversion
for atrial tachyarrhythmias with or without anatomic abnormalities (638). Venous collateral channels or arteriovenous malformations in the right lung in the presence of
a classic Glenn shunt may be ameliorated by conversion to
a modified Fontan procedure. This enables hepatic venous
blood to perfuse the right-sided pulmonary vascular bed
(631). Arteriovenous malformations often regress, provided they are not large and have not been long standing.
Clinically significant persistent venous collateral channels
or systemic aortopulmonary collaterals are usually treated
with transcatheter occlusion.
Atrial tachycardias can be treated by catheter ablation
versus Fontan conversion with Maze procedure (639). Complete AV block or sick sinus syndrome commonly requires
permanent pacing, usually epicardial.
PLE not amenable to medical or catheter therapy may be
treated by creation of an atrial septal fenestration or Fontan
conversion. The Fontan revision carries an operative mortality rate of 5% to 25% in reported series (636,640). If PLE is
due to Fontan pathway obstruction, successful revision of the
Fontan communication may be curative. PLE often requires
heart transplantation (640), although the PLE does not always
resolve. Severe SV dysfunction often requires heart transplantation (641).
14.10.1. Recommendations for Electrophysiology
Testing/Pacing Issues in Single-Ventricle Physiology
and After Fontan Procedure
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gist with expertise in CHD is recommended as a vital part of care.
2. New-onset atrial tachyarrhythmias should prompt a comprehensive noninvasive imaging evaluation to identify associated
atrial/baffle thrombus, anatomic abnormalities of the Fontan
pathway, or ventricular dysfunction. (Level of Evidence: C)
3. Electrophysiological studies in adults with Fontan physiology
should be performed at centers with expertise in the management
of such patients. (Level of Evidence: C)
4. Clinicians must be mindful of the high risk for symptomatic
IART in adult patients who have undergone the Fontan operation. This arrhythmia can cause serious hemodynamic compromise and contribute to atrial thrombus formation. Treatment is
often difficult, and consultation with an electrophysiologist
who is experienced with CHD is recommended whenever
recurrent IART is detected. (Level of Evidence: C)
The most significant rhythm issue facing adults who have
undergone the Fontan operation is recurrent IART. This arrhythmia is a major source of morbidity in the post-Fontan population, especially for patients who have undergone an atriopulmonary connection and subsequently developed advanced degrees
of dilation, thickening, and scarring of their right atrial chamber
(642). Newer modifications in the Fontan technique involving
cavopulmonary connections have resulted in a more favorable
rhythm outcome (634), but there is a large population of patients
who underwent repair in the older fashion who remain at risk.
More than 50% of patients with atriopulmonary connections
will develop IART within 15 years of operation compared
with fewer than 10% of patients with lateral tunnel or
extracardiac conduit connections. Beyond the surgical technique, other risk factors for development of IART include
concomitant sinus node dysfunction and older age at time of
Fontan operation (139). Tachycardia episodes can result in
significant hemodynamic compromise and, if long in duration, clot formation within the dilated right artery.
The reentrant circuits responsible for IART in post-Fontan
patients tend to propagate through regions of fibrotic right
atrial muscle located near lateral-wall atriotomy scars, atrial
septal patches, or the region of anastomosis with the pulmonary artery (583). Natural conduction barriers, such as the
crista terminalis and the superior and inferior vena caval
orifices, also influence these circuits (643). Quite often,
multiple potential IART circuits can be present in the same
patient (147). Once recognized, acute termination of IART
can be accomplished with direct current cardioversion, overdrive pacing (644), or certain class I or III antiarrhythmic
medications. Prevention of recurrent IART, however, remains
a major challenge.
Multiple strategies have evolved to address recurrent IART,
all of which have merit in select patients but none of which can
be considered a universal solution. Recurrent IART treatment
options after the Fontan operation are as follows:
●
CLASS I
1. Arrhythmia management is frequently an issue in patients after
the Fontan procedure, and consultation with an electrophysiolo-
●
Elective direct current cardioversion (if IART episodes are
very infrequent, recognized promptly, and well tolerated)
TEE is recommended before direct current cardioversion to
rule out atrial thrombus, unless there is clear documenta-
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●
●
●
●
●
tion the patient has been therapeutically anticoagulated for
several weeks
Implantation of an antibradycardia pacemaker (if significant sinoatrial node dysfunction is present)
Implantation of an atrial antitachycardia pacemaker
Antiarrhythmic drugs (assuming good sinoatrial node function and reasonable ventricular function)
Catheter ablation
Surgical revision of atriopulmonary connection to lateral
tunnel or extracardiac conduit, combined with atrial Maze
operation.
If IART episodes are infrequent (less than 1 per year or so),
well tolerated, and recognized promptly, it may be sufficient
to rely on periodic cardioversion rather than embark on
therapy with potent antiarrhythmic drugs or invasive procedures. In such cases, a chronic AV node– blocking agent
(digoxin, beta blocker, or calcium channel blocker) may be
prescribed to reduce the risk of a rapid ventricular response
during subsequent episodes, and chronic anticoagulation is
usually prescribed as well. If the episodes are frequent, cause
significant symptoms, go unrecognized by the patient for a
long time, or are associated with atrial thrombus formation
(645), 1 or more of the aggressive treatment options must be
considered. This is particularly true for patients with extremely dilated right atria and patients with hemodynamic
concerns such as reduced function of their single ventricle,
AV valve regurgitation, or pulmonary vein compression. As
discussed in Section 1.9, Recommendations for Arrhythmia
Diagnosis and Management, options for aggressive therapy
include pacemaker implantation to reverse bradycardia or
provide automatic atrial antitachycardia therapy (150,155),
drug therapy (149), catheter ablation (159), and surgical
revision of the Fontan connection combined with an atrial
Maze operation (160). The choice must be tailored to the
hemodynamic and electrophysiological status of the individual patient.
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Table 18. Key Issues to Monitor in Adults With Tricuspid
Atresia/Single Ventricle
Unoperated patients or those palliated only with a systemic arterial-to-PA shunt:
● Assessment for cavopulmonary connection or Fontan operation:
pulmonary pressure/resistance, PA stenosis/distortion, ventricular
systolic function, hypertrophy/diastolic function, valvular regurgitation,
systemic venous anatomy, obstructions to pulmonary or systemic flow,
size of ASD/VSD/BVF, pulmonary venous anatomy
● Catheterization/interventions to improve hemodynamics: stenting of
PAs, coarctation; closure of abnormal vessels: PDA, collateral vessels
● Ventricular function assessment: medical treatment options
● Assessment of and treatment for pulmonary vascular disease if present
● Arrhythmia/conduction disorders: diagnosis, management
● Scoliosis/pulmonary function
● Sexuality/contraception/pregnancy issues
● Airline travel
● Exercise participation
After superior vena cava–to–PA anastomosis or Fontan operation: all of the
above, plus the following:
● Thromboembolism prevention/treatment
● Postoperative cyanosis: catheterization/intervention/occlusion of
right-to-left shunts
● Pulmonary arteriovenous malformations with cyanosis
● Pulmonary vein obstruction
● Protein-losing enteropathy
● Plastic bronchitis637
● Arrhythmia management, including surgical conversion from RA or
RV-PA connection to lateral tunnel with cryoablation632
PA indicates pulmonary artery; ASD, atrial septal defect; VSD, ventricular
septal defect; BVF, bulboventricular foramen; PDA, patent ductus arteriosus;
RA, right artery; and RV-PA, right ventricular–pulmonary artery.
Prophylaxis
placed by surgery or catheter intervention, during the first 6
months after the procedure. (Level of Evidence: B)
CLASS IIa
CLASS III
manipulation of gingival tissue or the periapical region of teeth or
perforation of the oral mucosa is reasonable in those patients with
procedures (such as esophagogastroduodenoscopy or
colonoscopy) in the absence of active infection. (Level of
Evidence: C)
14.10.2. Other Issues to Evaluate and Follow-Up
Ventricular dysfunction, congestive heart failure, cyanosis,
and symptomatic arrhythmias are all relatively frequent
findings on long-term follow-up and require management
directed by an ACHD center as defined in these guidelines.
See key issues to monitor in adults with tricuspid atresia/
single ventricle in Table 18.
14.10.4. Activity
Exercise guidelines are available in the 36th Bethesda Conference
report (49). All patients who are not severely limited by symptoms
at rest should be encouraged to have an active lifestyle.
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exposure in the first trimester and resulting fetal embryopathy. In
each case, management must be individualized.
CLASS I
1. All women with a Fontan operation should have a comprehensive
evaluation by a physician with expertise in ACHD before proceeding
with a pregnancy. (Level of Evidence: C)
CLASS III
1. Pregnancy should not be planned without consultation and
evaluation at a comprehensive ACHD center with experience
and expertise in maternal and prenatal management of complex CHD. (Level of Evidence: C)
Successful pregnancy has been reported in postoperative
Fontan patients, but atrial arrhythmias, ventricular dysfunction,
edema, and ascites have been reported as maternal complications
(646,647). In addition, there is an increased risk for spontaneous
abortion and premature birth. For those patients undergoing
warfarin anticoagulation, this poses the additional risk of fetal
Staff
American College of Cardiology Foundation
John C. Lewin, MD, Chief Executive Officer
Charlene May, Senior Director, Science and Clinical Policy
Lisa Bradfield, Associate Director, Practice Guidelines
Mark D. Stewart, MPH, Associate Director, Evidence-Based
Medicine
Allison McDougall, Specialist, Practice Guidelines
Vita L. Washington, Specialist, Practice Guidelines
Erin A. Barrett, Senior Specialist, Science and Clinical Policy
American Heart Association
M. Cass Wheeler, Chief Executive Officer
Gayle R. Whitman, PhD, RN, FAHA, FAAN, Senior Vice
President, Office of Science Operations
Kathryn A. Taubert, PhD, FAHA, Senior Scientist
Appendixes
Appendix 1. Author Relationships With Industry and Other Entities—ACC/AHA 2008 Guidelines for the Management of
Adults With Congenital Heart Disease
Committee Member
Research Grant
Speakers’
Bureau
Stock
Ownership
Board of
Directors
Consultant/Advisory
Member
Dr. Carole A. Warnes (Co-Chair)
None
None
None
None
None
Dr. Roberta G. Williams (Co-Chair)
None
None
None
None
None
Dr. Thomas M. Bashore
None
None
None
None
None
Dr. John S. Child
None
None
None
None
None
Dr. Heidi M. Connolly
None
None
None
None
None
Dr. Joseph A. Dearani
None
None
None
None
None
Dr. Pedro del Nido
None
None
None
None
None
Dr. James W. Fasules
None
None
None
None
None
Dr. Thomas P. Graham, Jr
None
None
None
None
None
Dr. Ziyad M. Hijazi
None
None
None
None
● AGA Medical
Dr. Sharon A. Hunt
None
None
None
None
None
Dr. Mary Etta King
None
None
None
None
None
Dr. Michael J. Landzberg
● Actelion
None
None
None
None
None
None
None
None
● AGA Medical
● Myogen
● NMT Medical
● Pfizer
Dr. Pamela D. Miner
None
Dr. Martha J. Radford
None
None
None
None
None
Dr. Edward P. Walsh
None
None
None
None
None
Dr. Gary D. Webb
None
None
None
None
None
This table represents the relevant relationships of committee members with industry and other entities that were reported orally at the initial writing
committee meeting and updated in conjunction with all meetings and conference calls of the writing committee during the document development
process. It does not necessarily reflect relationships with industry at the time of publication. A person is deemed to have a significant interest in a
business if the interest represents ownership of 5% or more of the voting stock or share of the business entity, or ownership of $10 000 or more
of the fair market value of the business entity; or if funds received by the person from the business entity exceed 5% of the person’s gross income
for the previous year. A relationship is considered to be modest if it is less than significant under the preceding definition. Relationships in this table
are modest unless otherwise noted.
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JACC Vol. 52, No. 23, 2008
December 2, 2008:000–000
e103
Appendix 2. Peer Reviewer Relationships With Industry and Other Entities—ACC/AHA 2008 Guidelines for the Management of Adults
With Congenital Heart Disease
Reviewer
Representation
Consultant
Speakers’ Bureau
Ownership/
Partnership/
Principal
Research
Other
Dr. Ann G. Bolger
Official—American Heart
Association
None
None
None
None
None
Dr. James W.
Fasules
Official—American College
of Cardiology Foundation
Board of Trustees
None
None
None
None
None
Dr. Sharon A.
Hunt
of Cardiology/American
Heart Association Lead Task
Force Reviewer
None
None
None
None
None
Dr. William Mahle
Association
None
None
None
● Sanofi-Aventis
None
Dr. Brian
McCrindle
Association
None
None
None
None
None
Dr. Kevin Mulhern
Board of Governors
None
None
None
None
None
Dr. Emily Bacha
Organizational—Society of
Thoracic Surgeons
None
None
None
● Cryolife*
None
Organizational—International
Society for Adult Congenital
Heart Disease
None
Dr. Jack Colman
● Medtronic
None
None
None
● 2007 Plaintiff–Pregnancy
and Congenital Heart
Disease
● 2007 Defense–Pregnancy
and Congenital Heart
Disease
Dr. Elyse Foster
● Evalve*
Organizational—International
Society for Adult Congenital
Heart Disease
None
Dr. Robert
Hamilton
Organizational—Heart
Rhythm Society
None
None
None
None
None
Dr. Thomas K.
Jones
Organizational—Society for
Cardiovascular Angiography
and Interventions
● AGA Medical*
None
None
None
None
Dr. Thomas R.
Kimball
Organizational—American
Society of Echocardiography
None
None
None
None
None
Dr. Rachel
Lampert
Organizational—Heart
Rhythm Society
None
None
None
● Guidant/Boston
Scientific*
None
None
None
None
● Guidant/Boston
Scientific*
● Copatus Medical*
● WL Gore & Associates
● Medtronic*
● St. Jude
Medical*
Dr. Louis Bezold
Content—American College
Congenital Heart Disease/
Pediatric Cardiology
Committee
None
None
None
None
None
Dr. Frank Cetta
Committee
None
None
None
None
None
Dr. Barbara Deal
Committee
None
None
None
None
None
Dr. John
Deanfield
Content—Individual
None
None
None
None
None
Dr. Christopher C.
Erickson
Content—American Heart
Association Congenital
Cardiac Defects Committee
● Medtronic
None
None
None
● Expert witness for
defense regarding
ablation case, 2005
(Continued)
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Warnes et al.
Appendix 2.
Reviewer
JACC Vol. 52, No. 23, 2008
December 2, 2008:000–000
Continued
Speakers’ Bureau
Ownership/
Partnership/
Principal
● Actelion
● Boston Scientific*
● Hansen Medical*
● Pfizer
● Medtronic
Representation
Consultant
Dr. Michael
Gatzoulis
Association
Dr. Welton
Gersony
None
Dr. Michael
Gewitz
None
Dr. David Gregg
Congenital Heart
Disease/Pediatric Cardiology
Committee
None
Dr. Daphne Hsu
None
None
Dr. Walter H.
Johnson
None
Dr. Karen S.
Kuehl
Dr. Gerard R.
Martin
Research
● Actelion*
Other
None
● Pfizer*
● St. Jude
None
None
None
None
None
None
None
None
None
● Johnson &
Johnson*
None
None
None
None
None
None
None
None
None
None
None
None
None
None
Congenital Heart
Committee
None
None
None
None
None
Dr. G. Paul
Matherne
None
None
None
None
None
Dr. Geoffrey L.
Rosenthal
None
None
None
None
None
Dr. Craig Sable
None
None
None
None
None
Dr David J. Sahn
Congenital Heart
Committee
None
None
None
None
None
Dr. Jane
Somerville
None
None
None
None
None
Dr. Kathryn
Taubert
Association
None
None
None
None
None
Dr. Judith
Therrien
Content—Canadian
Congenital Heart Alliance
Committee
None
None
None
None
None
Dr. Elizabeth
Tong
None
None
None
None
None
Dr. Jeffery
Towbin
Congenital Heart
Committee
None
None
None
None
None
Dr. Catherine
Webb
Assocation Congenital
None
None
● Johnson &
Johnson*
None
None
● Schering-Plough
● Tyco*
● Wyeth*
This table represents the relevant relationships with industry and other entities that were disclosed at the time of peer review. It does not necessarily reflect
relationships with industry at the time of publication. A person is deemed to have a significant interest in a business if the interest represents ownership of 5% or
more of the voting stock or share of the business entity, or ownership of $10 000 or more of the fair market value of the business entity; or if funds received by the
person from the business entity exceed 5% of the person’s gross income for the previous year. A relationship is considered to be modest if it is less than significant
under the preceding definition. Relationships in this table are modest unless otherwise noted. Names are listed in alphabetical order within each category of review.
*Significant (greater than $10 000) relationship.
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JACC Vol. 52, No. 23, 2008
December 2, 2008:000–000
Appendix 3. Abbreviations List
ACE ⫽ angiotensin-converting enzyme
ACHD ⫽ adult congenital heart disease
ALCAPA ⫽ anomalous left coronary artery from the pulmonary artery
AR ⫽ aortic regurgitation
AS ⫽ aortic stenosis
ASD ⫽ atrial septal defect
ASO ⫽ arterial switch operation
AV ⫽ atrioventricular
AVR ⫽ aortic valve replacement
AVSD ⫽ atrioventricular septal defect
BAV ⫽ bicuspid aortic valve
BNP ⫽ brain natriuretic peptide
CAVF ⫽ coronary arteriovenous fistula
CCTGA ⫽ congenitally corrected transposition of the great
arteries
CHD ⫽ congenital heart disease
CHD-PAH ⫽ congenital heart disease–related pulmonary
arterial hypertension
CT ⫽ computed tomography
d-TGA ⫽ dextro-transposition of the great arteries
ECG ⫽ electrocardiogram
IART ⫽ intra-atrial reentrant tachycardia
IE ⫽ infective endocarditis
LV ⫽ left ventricular
LVOT ⫽ left ventricular outflow tract
MRI ⫽ magnetic resonance imaging
PAH ⫽ pulmonary arterial hypertension
PDA ⫽ patent ductus arteriosus
PFO ⫽ patent foramen ovale
PLE ⫽ protein-losing enteropathy
PS ⫽ pulmonary stenosis
PVR ⫽ pulmonary vascular resistance
Qp ⫽ pulmonary blood flow
Qs ⫽ systemic blood flow
RV ⫽ right ventricular
RVOT ⫽ right ventricular outflow tract
SAVV ⫽ systemic atrioventricular valve
SubAS ⫽ subaortic stenosis
SupraAS ⫽ supravalvular aortic stenosis
SV ⫽ systemic ventricle
TEE ⫽ transesophageal echocardiography
TGA ⫽ transposition of the great arteries
TR ⫽ tricuspid regurgitation
TTE ⫽ transthoracic echocardiography
VACA ⫽ valvuloplasty and angioplasty of congenital
anomalies
VSD ⫽ ventricular septal defect
VT ⫽ ventricular tachycardia
Appendix 4. Definitions of Surgical
Procedures for the Management
of Adults With CHD
Arterial Switch Operation (Jatene Procedure)
An operation used in complete TGA that involves removal of
the aorta from its attachment to the right ventricle and of the
pulmonary artery from the left ventricle. Reattachment of the
great arteries to the contralateral ventricles is performed, with
reimplantation of the coronary arteries into the neoaorta. This
e105
results in the left ventricle supporting the systemic circulation. A LeCompte procedure is often performed, which
involves translocation of the pulmonary artery confluence
anterior to the ascending aorta.
Atrial Switch Procedure
A procedure that redirects systemic and pulmonary venous
return to the contralateral ventricle. When used in complete
TGA (either Mustard or Senning procedure), this accomplishes physiological correction of the circulation while
leaving the right ventricle to support the systemic circulation.
In patients with CCTGA and in those who have had a
previous Mustard or Senning procedure, it is used as part of
a “double-switch procedure” that results in anatomic correction of the circulation, which results in the left ventricle
supporting the systemic circulation.
Baffes Procedure
Anastomosis of the right pulmonary veins to the right atrium
and of the inferior vena cava to the left atrium by use of an
aortic homograft to connect the inferior vena cava to the left
atrium. This operation provides partial physiological correction in patients with complete TGA.
Bentall Procedure
Replacement of the ascending aorta and aortic valve with a
valved conduit (composite graft-valve device) with reimplantation of the coronary ostia into the sides of the conduit. The
prosthetic valve may be tissue or mechanical.
Blalock-Hanlon Atrial Septectomy
A palliative procedure to improve systemic arterial oxygen
saturation in patients with complete TGA. A surgical atrial
septectomy is accomplished through a right thoracotomy,
excising the posterior aspect of the interatrial septum to
provide mixing of systemic and pulmonary venous return at
the atrial level.
Blalock-Taussig Shunt
A palliative operation that increases pulmonary blood flow
and enhances systemic oxygen saturation. It involves the
creation of an anastomosis between a subclavian artery and
ipsilateral pulmonary artery either directly with an end-toside anastomosis (classic) or by use of an interposition tube
graft (modified).
Brock Procedure
A palliative operation to increase pulmonary blood flow and
reduce right-to-left shunting in tetralogy of Fallot. It involves
resection of part of the right ventricle infundibulum with a
punch or biopsy-like instrument introduced through the
RVOT to reduce RVOT obstruction; the VSD remains open.
The operation was performed without cardiopulmonary bypass and is now of historical interest only.
Damus-Stansel-Kaye Procedure
A procedure applied to patients with abnormal ventriculoarterial connections who are not suitable for an ASO (eg, TGA
and unsuitable coronary artery patterns, double-outlet right
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Warnes et al.
ventricle with severe SubAS). The procedure involves anastomosis of the proximal end of the transected pulmonary
artery in an end-to-side fashion to the ascending aorta to
provide blood flow from the SV to the aorta; coronary arteries
are not translocated and are perfused in a retrograde fashion.
The aortic orifice and VSD (if present) are closed with a
patch. A conduit between the right ventricle and the distal
pulmonary artery provides venous blood to the lungs.
Double-Switch Procedure
An operation used in patients with CCTGA that results in
anatomic correction of the ventricle–to– great artery relationships so that the left ventricle supports the systemic circulation. It includes an arterial switch procedure (Jatene procedure) in all cases, as well as an atrial switch (Mustard or
Senning) procedure in the case of levo-TGA.
Fontan Procedure
A palliative procedure for patients with univentricular circulation that involves diversion of systemic venous return
directly to the pulmonary artery, usually without the interposition of a subpulmonary ventricle. There are multiple variations that all lead to normalization of systemic oxygen
saturation and elimination of volume overload of the SV.
JACC Vol. 52, No. 23, 2008
December 2, 2008:000–000
tion. The procedure includes a direct anastomosis between the
superior vena cava and the pulmonary artery. The procedure
does not cause SV volume overload.
Classic Glenn Procedure
Anastomosis of the superior vena cava to the distal end of the
divided right pulmonary artery with division and/or ligation
of the superior vena cava below the anastomosis. This results
in the superior vena cava being the only systemic venous
return to the right lung. Acquired pulmonary arteriovenous
malformations, with associated systemic arterial desaturation,
are a common long-term complication because of the absence
of hepatic factors to the right lung.
Bidirectional Glenn Shunt (Bidirectional
Cavopulmonary Shunt or Anastomosis
[BDCPA])
End-to-side anastomosis of the divided superior vena cava to
the undivided right pulmonary artery. This results in superior
vena cava blood being directed to both right and left pulmonary arteries. Pulmonary arteriovenous malformations are
absent with this configuration. Also referred to as a bidirectional cavopulmonary anastomosis or shunt.
Hemi-Fontan
Fontan/Atriopulmonary Connection
A form of the Fontan operation in which an anastomosis is
created between the right atrium and the main pulmonary
artery. This form of the Fontan operation is usually not
performed in the current era.
Fontan/Extracardiac Conduit
Inferior vena cava blood is directed to the pulmonary arteries
via an extracardiac conduit (eg, Gore-Tex tube or valveless
homograft). The superior vena cava is anastomosed to the
right pulmonary artery as a bidirectional cavopulmonary
anastomosis.
Fontan Fenestration
Surgical creation of an ASD in the atrial patch or baffle or
conduit to provide an escape valve that allows a right-to-left
shunt to reduce pressure in the systemic venous circuit at the
expense of systemic hypoxemia.
Fontan/Lateral Tunnel
Inferior vena cava blood is directed by means of a baffle
(usually Gore-Tex) within the right atrium into the lower
portion of the divided superior vena cava or right atrial
appendage, which is connected to the pulmonary artery.
The upper part of the superior vena cava is connected to
the superior aspect of the right pulmonary artery, as in the
bidirectional cavopulmonary anastomosis, or is left connected to the right atrium and channeled toward an
atriopulmonary connection. In general, the majority of the
right atrium is excluded from the systemic venous circuit.
The first part of a “staged” Fontan procedure, sometimes
chosen to reduce the morbidity/mortality that might be
associated with performance of the completed Fontan at 1
operation. It is a modification of the bidirectional cavopulmonary anastomosis used at some centers for second-stage
palliation in patients with single-ventricle physiology, particularly hypoplastic left-sided heart syndrome. The procedure
involves an atriopulmonary anastomosis between the dome of
the right atrium and the underside of the right pulmonary
artery. A Gore-Tex patch (baffle) is then placed in the
superior aspect of the right atrium to direct blood flow from
the superior vena cava atriocaval junction into the atriopulmonary anastomosis. The Gore-Tex baffle typically extends
into the left pulmonary artery behind the aorta, thus augmenting the central pulmonary artery area.
Ilbawi Procedure
An operation for CCTGA with VSD and PS in which a
communication is established between the left ventricle and
the aorta via the VSD with a baffle within the right ventricle.
The right ventricle is connected to the pulmonary artery by a
valved conduit. An atrial switch procedure is performed. The
left ventricle then supports the systemic circulation.
Konno-Rastan Procedure
Repair of tunnel-like subvalvular LVOT obstruction by aortoventriculoplasty. The procedure involves enlargement of
the LVOT by insertion of a patch in the ventricular septum
and performance of AVR with enlargement of the aortic
annulus and ascending aorta.
Glenn Shunt (Cavopulmonary Shunt)
Maze Procedure
A palliative operation for the purpose of increasing pulmonary blood flow and thus increasing systemic oxygen satura-
An antiarrhythmia procedure designed to treat atrial fibrillation and/or atrial flutter. The original procedure (Cox-Maze
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III) involves a series of right and left atrial incisions with
selected cryoablation at the tricuspid, mitral annuli, and
coronary sinus sites. Modifications of this original procedure
include performing right- or left-sided lesions only. In addition, various cryoablation and radiofrequency devices are
available to simplify the original procedure.
e107
Rashkind Procedure
A balloon atrial septostomy performed via cardiac catheterization as a palliative procedure to allow mixing of systemic
and pulmonary venous return in children with complete TGA.
Rastelli Procedure
An atrial switch operation for complete TGA in which venous
return is directed to the contralateral ventricle by means of an
atrial baffle made from autologous pericardium or synthetic
material (eg, Gore-Tex) after resection of most of the atrial
septum. This results in the right ventricle supporting the
systemic circulation.
An operation for repair of complete TGA in association with
a large VSD and LVOT obstruction. A communication is
established between the left ventricle and the aorta by VSD
closure with a baffle within the right ventricle. The right
ventricle is connected to the pulmonary artery by a valved
conduit, and the left ventricle–to–pulmonary artery connection is obliterated. As a consequence, the left ventricle
supports the systemic circulation.
Norwood Procedure
Ross Procedure
Mustard Procedure
A procedure for hypoplastic left heart syndrome. The procedure involves aortic arch reconstruction and creation of an
anastomosis between the main pulmonary artery and the
neoaorta. An atrial septectomy is performed. In addition, a
systemic–to–pulmonary arterial shunt is created (from the
brachiocephalic artery to the right pulmonary artery), or a
shunt from the right ventricle to the pulmonary artery (Sano
modification) is performed. The Norwood procedure is usually followed later by a Glenn shunt and subsequently a
Fontan-type procedure, which results in single-ventricle
physiology.
Palliative Operation
A procedure performed for the purposes of relieving symptoms or ameliorating some of the adverse effects of a
congenital anomaly that does not address the fundamental
anatomic or physiological disturbance. This is in contrast to
“complete repair” or “reparative” or “corrective” operation.
Potts Shunt
A palliative operation for the purpose of increasing pulmonary blood flow and enhancing systemic oxygen saturation.
The procedure involves the creation of a small communication between a pulmonary artery and the ipsilateral descending thoracic aorta. This is most often performed on the left
side with situ solitus of the atria and viscera. It often results
in the development of pulmonary vascular obstructive disease
if the communication is too large or acquired stenosis and/or
atresia of the pulmonary artery if distortion occurs.
A method of aortic valve replacement that involves autograft
transplantation of the pulmonary valve, annulus, and main
pulmonary artery into the aortic position with reimplantation
of the coronary ostia into the neoaorta. The RVOT is usually
reconstructed with a pulmonary homograft conduit.
Senning Procedure
An atrial switch operation for complete TGA in which venous
return is directed to the contralateral ventricle by means of an
intra-atrial baffle fashioned in situ by use of the right atrial
wall and interatrial septum. As a consequence, the right
ventricle supports the systemic circulation.
Switch Conversion of TGA (Double Switch)
An operation performed in patients with CCTGA. This allows
the left ventricle to assume the function of the SV. The first
stage may involve pulmonary artery banding to induce
hypertrophy of the morphological left ventricle. The second
stage involves an arterial switch procedure and a Mustard or
Senning operation.
Takeuchi Procedure
A technique to repair an anomalous left coronary artery from
the pulmonary artery (ALCAPA) when the position of the left
coronary orifice does not allow direct reimplantation into the
aorta. The procedure consists of a baffle of pulmonary artery
tissue to reroute the ALCAPA into the aorta via an intrapulmonary baffle.
Pulmonary Artery Banding
Valve-Sparing Aortic Root Replacement
Surgically created stenosis of the main pulmonary artery
performed as a palliative procedure to protect the lungs
against high pulmonary blood flow and pressure when definitive repair of the underlying congenital anomaly is not
immediately advisable or recommended (eg, multiple VSDs,
Swiss cheese septum). More commonly performed in an
earlier surgical era when neonatal repair for complex CHD
was not feasible.
A surgical procedure for an ascending aortic aneurysm
involving the sinuses of Valsalva that involves resection of
the aortic root with mobilization of the coronary ostia. The
aortic root is reconstructed with a tube graft, with resuspension of the native aortic valve within the graft and reimplantation of the coronary ostia.
Pulmonary Vein Isolation Procedure
An encircling incision, cryoablation, or radiofrequency application performed on the left atrium adjacent to the origins of
the left- and right-sided pulmonary veins.
Ventricular Repair
1-Ventricle Repair: See Fontan procedure.
1.5-Ventricle Repair: A term used to describe a procedure
for cyanotic CHD performed when the pulmonary ventricle is
insufficiently developed to accept the entire systemic venous
return. A bidirectional cavopulmonary connection is con-
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Warnes et al.
structed to direct superior vena cava blood flow directly to the
pulmonary arteries, whereas the inferior vena caval blood
flow is directed to the lungs via the small pulmonary
ventricle.
2-Ventricle Repair: A term used to describe operations for
cyanotic CHD with common ventricle or adequately sized
pulmonary and systemic ventricles that communicate via a
VSD. The pulmonary and systemic circulations are septated
surgically by placement of an intraventricular patch (for
common ventricle) or VSD patch (for separate pulmonary
ventricle and SV cavities).
Warden Procedure
Technique to repair partial anomalous pulmonary venous
connection to the superior vena cava, usually with an associated sinus venosus ASD. The superior vena cava is
transected above the most proximal anomalous pulmonary
vein; the proximal superior vena cava is then anastomosed to
the right atrial appendage. The superior vena cava–right atrial
junction is closed by patch, and the superior vena cava with
the anomalous draining pulmonary veins is left draining to
the left atrium via the sinus venosus ASD. The azygous vein
is ligated. This technique is particularly useful when the
anomalous pulmonary veins are draining into the mid and
upper superior vena cava.
Waterston Shunt
A palliative operation for the purpose of increasing pulmonary blood flow and enhancing systemic oxygen saturation
that involves creation of a small communication between the
right pulmonary artery and the ascending aorta. It is often
complicated by the development of pulmonary vascular
obstructive disease if the communication is too large. It also
may cause distortion of the pulmonary artery.
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KEY WORDS: ACC/AHA Practice Guidelines 䡲 congenital heart disease 䡲
cardiac defects 䡲 congenital heart surgery 䡲 unoperated/repaired heart
defects 䡲 medical therapy 䡲 cardiac catheterization.
ACC/AHA 2008 Guidelines for the Management of Adults With Congenital
Heart Disease: A Report of the American College of Cardiology/American
Heart Association Task Force on Practice Guidelines (Writing Committee to
Develop Guidelines on the Management of Adults With Congenital Heart
Disease) Developed in Collaboration With the American Society of
Echocardiography, Heart Rhythm Society, International Society for Adult
Congenital Heart Disease, Society for Cardiovascular Angiography and
Interventions, and Society of Thoracic Surgeons
Carole A. Warnes, Roberta G. Williams, Thomas M. Bashore, John S. Child, Heidi
M. Connolly, Joseph A. Dearani, Pedro del Nido, James W. Fasules, Thomas P.
Graham, Jr, Ziyad M. Hijazi, Sharon A. Hunt, Mary Etta King, Michael J.
Landzberg, Pamela D. Miner, Martha J. Radford, Edward P. Walsh, and Gary D.
Webb
J. Am. Coll. Cardiol. published online Nov 7, 2008;
doi:10.1016/j.jacc.2008.10.001
This information is current as of November 8, 2008
Updated Information
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